Molecular Genetics and Metabolism
Journal Impact IF - Analysis · Trend · Prediction · Ranking


Journal Impact IF




Journal Impact IF Trend

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Molecular Genetics and Metabolism

The 2019-2020 Journal Impact IF of Molecular Genetics and Metabolism is 4.17, which is just updated in 2020.

Molecular Genetics and Metabolism Impact Factor
Highest IF
Highest Journal Impact IF

The highest Journal Impact IF of Molecular Genetics and Metabolism is 4.17.

Lowest IF
Lowest Journal Impact IF

The lowest Journal Impact IF of Molecular Genetics and Metabolism is 2.625.

Total Growth Rate
IF Total Growth Rate

The total growth rate of Molecular Genetics and Metabolism IF is 30.6%.

Annual Growth Rate
IF Annual Growth Rate

The annual growth rate of Molecular Genetics and Metabolism IF is 3.4%.

Journal Impact IF Ranking

Subcategory Quartile Rank Percentile
Biochemistry Q1 96/407

Biochemistry 76%

Endocrinology, Diabetes and Metabolism Q1 44/217

Endocrinology, Diabetes and Metabolism 79%

Endocrinology Q2 32/118

Endocrinology 73%

Genetics Q1 75/324

Genetics 77%

Molecular Biology Q2 120/381

Molecular Biology 68%

Journal Impact IF Ranking

· In the Biochemistry research field, the Quartile of Molecular Genetics and Metabolism is Q1. Molecular Genetics and Metabolism has been ranked #96 over 407 related journals in the Biochemistry research category. The ranking percentile of Molecular Genetics and Metabolism is around 76% in the field of Biochemistry.
· In the Endocrinology, Diabetes and Metabolism research field, the Quartile of Molecular Genetics and Metabolism is Q1. Molecular Genetics and Metabolism has been ranked #44 over 217 related journals in the Endocrinology, Diabetes and Metabolism research category. The ranking percentile of Molecular Genetics and Metabolism is around 79% in the field of Endocrinology, Diabetes and Metabolism.
· In the Endocrinology research field, the Quartile of Molecular Genetics and Metabolism is Q2. Molecular Genetics and Metabolism has been ranked #32 over 118 related journals in the Endocrinology research category. The ranking percentile of Molecular Genetics and Metabolism is around 73% in the field of Endocrinology.
· In the Genetics research field, the Quartile of Molecular Genetics and Metabolism is Q1. Molecular Genetics and Metabolism has been ranked #75 over 324 related journals in the Genetics research category. The ranking percentile of Molecular Genetics and Metabolism is around 77% in the field of Genetics.
· In the Molecular Biology research field, the Quartile of Molecular Genetics and Metabolism is Q2. Molecular Genetics and Metabolism has been ranked #120 over 381 related journals in the Molecular Biology research category. The ranking percentile of Molecular Genetics and Metabolism is around 68% in the field of Molecular Biology.

Molecular Genetics and Metabolism Impact Factor 2020-2021 Prediction

Molecular Genetics and Metabolism Impact Factor Predition System

Molecular Genetics and Metabolism Impact Factor Prediction System is now online. You can start share your valuable insights with the community.

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Total Publications
Total Citations

Annual Publication Volume

Annual Citation Record

International Collaboration Trend

Cited Documents Trend

Journal Impact IF History

Year Journal Impact IF
Year Journal Impact IF
2019-2020 4.17
2018-2019 3.61
2017-2018 3.774
2016-2017 3.769
2015-2016 3.093
2014-2015 2.625
2013-2014 2.827
2012-2013 2.834
2011-2012 3.193
Journal Impact IF History

· The 2019-2020 Journal Impact IF of Molecular Genetics and Metabolism is 4.17
· The 2018-2019 Journal Impact IF of Molecular Genetics and Metabolism is 3.61
· The 2017-2018 Journal Impact IF of Molecular Genetics and Metabolism is 3.774
· The 2016-2017 Journal Impact IF of Molecular Genetics and Metabolism is 3.769
· The 2015-2016 Journal Impact IF of Molecular Genetics and Metabolism is 3.093
· The 2014-2015 Journal Impact IF of Molecular Genetics and Metabolism is 2.625
· The 2013-2014 Journal Impact IF of Molecular Genetics and Metabolism is 2.827
· The 2012-2013 Journal Impact IF of Molecular Genetics and Metabolism is 2.834
· The 2011-2012 Journal Impact IF of Molecular Genetics and Metabolism is 3.193

Publications Cites Dataset

Year Publications Citations
Year Publications Citations
1997 0 7
1998 119 70
1999 167 344
2000 160 1014
2001 151 1691
2002 143 2363
2003 138 2816
2004 158 3697
2005 181 4242
2006 177 5005
2007 284 5767
2008 299 6191
2009 327 6763
2010 400 8010
2011 422 9042
2012 470 9996
2013 474 11016
2014 431 10793
2015 424 11200
2016 480 10237
2017 536 10380
2018 526 8571
2019 527 9892
2020 568 12160
2021 7 741
Publications Cites Dataset

· The Molecular Genetics and Metabolism has published 0 reports and received 7 citations in 1997.
· The Molecular Genetics and Metabolism has published 119 reports and received 70 citations in 1998.
· The Molecular Genetics and Metabolism has published 167 reports and received 344 citations in 1999.
· The Molecular Genetics and Metabolism has published 160 reports and received 1014 citations in 2000.
· The Molecular Genetics and Metabolism has published 151 reports and received 1691 citations in 2001.
· The Molecular Genetics and Metabolism has published 143 reports and received 2363 citations in 2002.
· The Molecular Genetics and Metabolism has published 138 reports and received 2816 citations in 2003.
· The Molecular Genetics and Metabolism has published 158 reports and received 3697 citations in 2004.
· The Molecular Genetics and Metabolism has published 181 reports and received 4242 citations in 2005.
· The Molecular Genetics and Metabolism has published 177 reports and received 5005 citations in 2006.
· The Molecular Genetics and Metabolism has published 284 reports and received 5767 citations in 2007.
· The Molecular Genetics and Metabolism has published 299 reports and received 6191 citations in 2008.
· The Molecular Genetics and Metabolism has published 327 reports and received 6763 citations in 2009.
· The Molecular Genetics and Metabolism has published 400 reports and received 8010 citations in 2010.
· The Molecular Genetics and Metabolism has published 422 reports and received 9042 citations in 2011.
· The Molecular Genetics and Metabolism has published 470 reports and received 9996 citations in 2012.
· The Molecular Genetics and Metabolism has published 474 reports and received 11016 citations in 2013.
· The Molecular Genetics and Metabolism has published 431 reports and received 10793 citations in 2014.
· The Molecular Genetics and Metabolism has published 424 reports and received 11200 citations in 2015.
· The Molecular Genetics and Metabolism has published 480 reports and received 10237 citations in 2016.
· The Molecular Genetics and Metabolism has published 536 reports and received 10380 citations in 2017.
· The Molecular Genetics and Metabolism has published 526 reports and received 8571 citations in 2018.
· The Molecular Genetics and Metabolism has published 527 reports and received 9892 citations in 2019.
· The Molecular Genetics and Metabolism has published 568 reports and received 12160 citations in 2020.
· The Molecular Genetics and Metabolism has published 7 reports and received 741 citations in 2021.
· The total publications of Molecular Genetics and Metabolism is 7569.
· The total citations of Molecular Genetics and Metabolism is 152008.

What is Impact Factor?

The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly average number of citations of articles published in the last two years in a given journal. It is frequently used as a proxy for the relative importance of a journal within its field; journals with higher impact factor values are often deemed to be more important, or carry more intrinsic prestige in their respective fields, than those with lower values.

Molecular Genetics and Metabolism | Academic Accelerator - About the Impact Factor

Impact factor is commonly used to evaluate the relative importance of a journal within its field and to measure the frequency with which the “average article” in a journal has been cited in a particular time period. Journal which publishes more review articles will get highest IFs. Journals with higher IFs believed to be more important than those with lower ones. According to Eugene Garfield “impact simply reflects the ability of the journals and editors to attract the best paper available.” Journal which publishes more review articles will get maximum IFs. The Impact Factor of an academic journal is a scientometric Metric that reflects the yearly average number of citations that recent articles published in a given journal received. It is frequently used as a Metric for the relative importance of a journal within its field; journals with higher Impact Factor are often deemed to be more important than those with lower ones. The Molecular Genetics and Metabolism Impact Factor IF measures the average number of citations received in a particular year (2020) by papers published in the Molecular Genetics and Metabolism during the two preceding years (2018-2019). Note that 2020 Impact Factor are reported in 2021; they cannot be calculated until all of the 2020 publications have been processed by the indexing agency. New journals, which are indexed from their first published issue, will receive an impact factor after two years of indexing; in this case, the citations to the year prior to Volume 1, and the number of articles published in the year prior to Volume 1, are known zero values. Journals that are indexed starting with a volume other than the first volume will not get an impact factor until they have been indexed for three years. Occasionally, Journal Citation Reports assigns an impact factor to new journals with less than two years of indexing, based on partial citation data. The calculation always uses two complete and known years of item counts, but for new titles one of the known counts is zero. Annuals and other irregular publications sometimes publish no items in a particular year, affecting the count. The impact factor relates to a specific time period; it is possible to calculate it for any desired period. In addition to the 2-year Impact Factor, the 3-year Impact Factor, 4-year Impact Factor, 5-year Impact Factor, Real-Time Impact Factor can provide further insights and factors into the impact of Molecular Genetics and Metabolism.


The impact factor was devised by Eugene Garfield, the founder of the Institute for Scientific Information (ISI). Impact factors are calculated yearly starting from 1975 for journals listed in the Journal Citation Reports (JCR). ISI was acquired by Thomson Scientific & Healthcare in 1992, and became known as Thomson ISI. In 2018, Thomson ISI was sold to Onex Corporation and Baring Private Equity Asia. They founded a new corporation, Clarivate, which is now the publisher of the JCR.


The impact factor is used to compare different journals within a certain field. The Web of Science indexes more than 11,500 science and social science journals. Journal impact factors are often used to evaluate the merit of individual articles and individual researchers. This use of impact factors was summarised by Hoeffel:

Impact Factor is not a perfect tool to measure the quality of articles but there is nothing better and it has the advantage of already being in existence and is, therefore, a good technique for scientific evaluation. Experience has shown that in each specialty the best journals are those in which it is most difficult to have an article accepted, and these are the journals that have a high impact factor. Most of these journals existed long before the impact factor was devised. The use of impact factor as a measure of quality is widespread because it fits well with the opinion we have in each field of the best journals in our specialty....In conclusion, prestigious journals publish papers of high level. Therefore, their impact factor is high, and not the contrary.

Eugene Garfield

In brief, Impact factors may be used by:
  • Authors to decide where to submit an article for publication.
  • Libraries to make collection development decisions
  • Academic departments to assess academic productivity
  • Academic departments to make decisions on promotion and tenure.
As impact factors are a journal-level metric, rather than an article- or individual-level metric, this use is controversial. Garfield agrees with Hoeffel,but warns about the "misuse in evaluating individuals" because there is "a wide variation [of citations] from article to article within a single journal". Other things to consider about Impact Factors:
  • Many journals do not have an impact factor.
  • The impact factor cannot assess the quality of individual articles. Even if citations were evenly distributed among articles, the impact factor would only measure the interests of other researchers in an article, not its importance and usefulness.
  • Only research articles, technical notes and reviews are “citable” items. Editorials, letters, news items and meeting abstracts are “non-citable items”.
  • Only a small percentage of articles are highly cited and they are found in a small subset of journals. This small proportion accounts for a large percentage of citations.
  • Controversial papers, such as those based on fraudulent data, may be highly cited, distorting the impact factor of a journal.
  • Citation bias may exist. For example, English language resources may be favoured. Authors may cite their own work.
Moreover, informed and careful use of these impact data is essential, and should be based on a thorough understanding of the methodology used to generate impact factors. There are controversial aspects of using impact factors:
  • It is not clear whether the number of times a paper is cited measures its actual quality.
  • Some databases that calculate impact factors fail to incorporate publications including textbooks, handbooks and reference books.
  • Certain disciplines have low numbers of journals and usage. Therefore, one should only compare journals or researchers within the same discipline.
  • Review articles normally are cited more often and therefore can skew results.
  • Self-citing may also skew results.
  • Some resources used to calculate impact factors have inadequate international coverage.
  • Editorial policies can artificially inflate an impact factor.
Impact factors have often been used in advancement and tenure decision-making. Many recognize that this is a coarse tool for such important decisions, and that a multitude of factors should be taken into account in these deliberations. When considering the use of the impact factor (IF), keep these aspects in mind:
  • IF analysis is limited to citations from the journals indexed by the Web of Science/Web of Knowledge. Currently, the Web of Science indexes only 8621 journals across the full breadth of the sciences, and just 3121 in the social sciences.
  • A high IF/citation rate says nothing about the quality -- or even, validity -- of the references being cited. Notorious or even retracted articles often attract a lot of attention, hence a high number of citations. The notority related to the first publication on "cold fusion" is one such example.
  • Journals that publish more "review articles" are often found near the top of the rankings. While not known for publishing new, creative findings, these individual articles tend to be heavily cited.
  • The IF measures the average number of citations to articles in the journal -- given this, a small number of highly-cited articles will skew the figure.
  • It takes several years for new journals to be added to the list of titles indexed by the Web of Science/Web of Knowledge, so these newer titles will be under-represented.
  • It's alleged that journal editors have learned to "game" the system, encouraging authors to cite their works previously published in the same journal.
Comparing Journals Across Disciplines? Not a good idea! Using Impact Factors within a given discipline should only be done with great care, as described above. Using impact factor data to compare journals across disciplines is even more problematic. Here are some of the reasons:
  • Disciplines where older literature is still referenced, such as Chemistry and Mathematics, offer challenges to the methodolgy since older citations (older than two years) are not used to calculate the impact factor for a given journal. (Five-year impact factor analysis, which can be calculated using the Journal Citation Index database, helps smooth out this problem only to some degree.)
  • Different disciplines have different practices regarding tendency to cite larger numbers of references. Higher overall citation rates will bump upward impact factor measurements.
  • Where it's common for large numbers of authors to collaborate on a single paper, such as in Physics, the tendency of authors to cite themselves (and in this case, more authors) will result in increased citation rates.

Pros and Cons of the Impact Factor


  • A vetted, established metric for measuring journal impact within a discipline.
  • Designed to eliminate bias based on journal size and frequency.
  • Individual articles makes an uneven contribution to overall Impact Factor.
  • Impact Factor does not account for certain things, things like context (postive or negative citaion) and intentionality (self-citation).
  • The metric is proprietary to and bound by the contents of the Thomson Reuters database.
  • Citations, on which the Impact Factor is based, count for less than 1% of an article's overall use.


Numerous critiques have been made regarding the use of impact factors. A 2007 study noted that the most fundamental flaw is that impact factors present the mean of data that are not normally distributed, and suggested that it would be more appropriate to present the median of these data. There is also a more general debate on the validity of the impact factor as a measure of journal importance and the effect of policies that editors may adopt to boost their impact factor (perhaps to the detriment of readers and writers). Other criticism focuses on the effect of the impact factor on behavior of scholars, editors and other stakeholders. Others have made more general criticisms, arguing that emphasis on impact factor results from negative influence of neoliberal policies on academia claiming that what is needed is not just replacement of the impact factor with more sophisticated metrics for science publications but also discussion on the social value of research assessment and the growing precariousness of scientific careers in higher education.
Experts stress that there are limitations in using impact factors to evaluate a scholar's work. There are many reasons cited for not relying on impact factor alone to evaluate the output of a particular individual. Among these are the following:

  • A single factor is not sufficient for evaluating an author's work.
  • Journal values are meaningless unless compared within the same discipline. Impact factors vary among disciplines.
  • The impact factor was originally devised to show the impact of a specific journal, not a specific scholar. The quality and impact of the author's work may extend beyond the impact of a particular journal.
According to Jim Testa, a researcher for ThomsonReuters Scientific, the most widespread misuse of the Impact Factor is to evaluate the work of an individual author (instead of a journal). "To say that because a researcher is publishing in a certain journal, he or she is more influential or deserves more credit is not necessarily true. There are many other variables to consider." (interview 6/26/2008 in Thomson Reuters blog entry)

Molecular Genetics and Metabolism
Journal Profile


Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models. Molecular Genetics and Metabolism is a peer-reviewed academic journal published by Academic Press. It is the official journal of the Society for Inherited Metabolic Disorders. The editor is E.R.B. McCabe.

Highly Cited Keywords


The ISSN of Molecular Genetics and Metabolism is 1096-7192 . An ISSN is an 8-digit code used to identify newspapers, journals, magazines and periodicals of all kinds and on all media–print and electronic.

ISSN (Online)
ISSN (Online)

The ISSN (Online) of Molecular Genetics and Metabolism is 1096-7206 . An ISSN is an 8-digit code used to identify newspapers, journals, magazines and periodicals of all kinds and on all media–print and electronic.

Academic Press Inc.

Molecular Genetics and Metabolism is published by Academic Press Inc. .

Publication Frequency
Publication Frequency

Molecular Genetics and Metabolism publishes reports Monthly .

1998 - Present

The Publication History of Molecular Genetics and Metabolism covers 1998 - Present .

Open Access
Open Access

Molecular Genetics and Metabolism is Subscription-based (non-OA) Journal. Publishers own the rights to the articles in their journals. Anyone who wants to read the articles should pay by individual or institution to access the articles. Anyone who wants to use the articles in any way must obtain permission from the publishers.

Publication Fee
Publication Fee

There is no publication fee for submiting manuscript to Molecular Genetics and Metabolism. Molecular Genetics and Metabolism is Subscription-based (non-OA) Journal. Publishers own the rights to the articles in their journals. Anyone who wants to read the articles should pay by individual or institution to access the articles.


The language of Molecular Genetics and Metabolism is English .

United States

The publisher of Molecular Genetics and Metabolism is Academic Press Inc. , which locates in United States .

Selected Articles

Full Title Authors
Full Title Authors
Preclinical development of a platform for enzyme therapy in the CNS of MPS I and MPS II patients based on intrathecal AAV delivery Alfredo Uribe Ardila · John Gamba Rendón · Patricia Moreno Silva · Patricia Moreno Silva
First impressions of two new brilliant biomarkers for Pompe disease in plasma and urine in comparison to Hex4 and Glc4 in urine Erika Vucko · Erika Vucko
Confirmatory assays for alpha-glucosidase enzymatic values using glycogen: An improving test for the diagnosis of Pompe disease Thomas J. Langan · Amy Barczykowski · Kabir Jalal · Laura Sherwood · Heather Allewelt · Joanne Kurtzberg · Randy L. Carter · Randy L. Carter
Outcomes of newborn screening for Gaucher disease in Illinois Ana Pinto · Anabela Bandeira · Isabel Carvalho · Arlindo Guimas · Paul Harmatz · Esmeralda Martins · Esmeralda Martins
Mucopolysaccharidosis type VI and aberrant right subclavian artery: A rare association in a challenging airway Michael J. Przybilla · Li Ou · Chester B. Whitley · Chester B. Whitley
Experience of the nutritional management of infantile onset lysosomal acid lipase deficiency (LALD) Juan Politei · Gisel Gordillo Gonzalez · Norberto Guelbert · Carolina Fischinger Moura de Souza · Mariana M. Junqueira · Charles Marques Lourenço · Martha Solano · Martha Solano
Fetal accumulation of glycosaminoglycan in a mouse model of Hurler syndrome Sarah Kim · Jeanine Jarnes · Jeanine Jarnes
Recommendations for evaluation and management of pain in patients with mucopolysaccharidosis in Latin America Kohji Itoh · So-Ichiroh Nishioka · Isao Kobayashi · Yuji Matsuzaki · Kenta Iino · Satomi Nadanaka · Megumi Kasashima-Sumitani · Tomo Hidaka · Daisuke Tsuji · Hideki Sezutsu · Hiroshi Kitagawaa · Kenji Yamamoto · Kenji Yamamoto
Optimizing immune tolerizing regimens for in-vivo gene therapy William M. Pardridge · Ruben J. Boado · Roberto Giugliani · Mathias Schmidt · Mathias Schmidt
A novel glycotechnology to produce human lysosomal enzymes carrying synthetic N-glycans with terminal mannose 6-phosphate residues and application to enzyme placement therapy for lysosomal diseases Tanya Collin-Histed · Christine Lavery · Toni Mathieson · Pat Roberts · Allan Muir · Andrea West · Dan Lewi · Dan Lewi
Plasma pharmacokinetics of a human insulin receptor antibody-iduronidase fusion protein in patients with mucopolysaccharidosis type I Pilar Giraldo · Marcio Andrade-Campos · Esther Valero · Mercedes Roca · Mercedes Roca
Erythrocyte osmotic resistance test as a screening tool for lysosomal diseases Christian Hinderer · Juliette Hordeaux · Nathan Katz · Peter Bell · Tamara Goode · Mark E. Haskins · James M. Wilson · James M. Wilson
For a patient of unidentified cardiomyopathy, NGS (nest gene sequense analysis) was useful for a diagnosis for Fabry disease Barbara C. Soberon · Nicolas Fernandez Escobar · Nora Basack · Debora Detoni · Maria Silvia Larroude · Gabriel Aguilar · I. Rossi · Nora Watman · Marta Dragosky · Andrea Schenone · Guillermo Drelichman · Guillermo Drelichman
Neural stem cells provide continuous enzyme replacement therapy and reduce neuropathology in Sanfilippo syndrome type B mice Scott B. Selleck · Claire Reynolds-Peterson · Brandon Yonel · Claire Trasorras · Jie Xu · Hiroshi Nakato · Hidenao Toyoda · Hidenao Toyoda
Expanded analysis of Lyso-GB3 analogues and correlation with total Lyso-GB3 and Fabry status in 59 clinical patients Neslihan Önenli Mungan · Berna Seker Yilmaz · Deniz Kör · Derya Bulut · Sebile Kılavuz · Sevcan Erdem · Sevcan Erdem
Variable clinical features in Fabry disease in patients with novel mutations Andrea Crivaro · Constanza Bondar · Maximiliano Ormazabal · Juan Mucci · Edward H. Schuchman · Calogera M. Simonaro · Paula Rozenfeld · Paula Rozenfeld
Early onset alpha-mannosidosis: A Turkish case Murtaza S. Nagree · Mary L. Faber · Everett Tate · Mark A. Schroeder · John F. DiPersio · Jeffrey A. Medin · Jeffrey A. Medin
In vivo enrichment of transduced cells to enhance gene therapy for Fabry disease Jinlong Jian · Yuehong Chen · Chuan-ju Liu · Chuan-ju Liu
Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick disease types A/B and C: Three years experience Nicholas Bascou · Anthony DeRenzo · Michele D. Poe · Maria L. Escolar · Maria L. Escolar
Progranulin stabilizes hexosaminidase A and is therapeutic in Tay-Sachs disease Na Lin · Xinying Hong · Michael H. Gelb · Melissa P. Wasserstein · Chunli Yu · Chunli Yu
Pegunigalsidase alfa, a novel PEGylated ERT for Fabry disease: Two-year safety and efficacy follow up Julia B. Hennermann · Laila Arash-Kaps · György Fekete · Andreas Schaaf · Andreas Busch · Thomas Frischmith · Thomas Frischmith
The influence of zinc ion in measurement of leukocyte acid sphingomyelinase activity Susanne Walls · Miia Rainto · Ilkka Kantola · Ilkka Kantola
Prediction of the human equivalent dose (HED) of RVT-801, a recombinant human acid ceramidase, for the treatment of Farber disease Joaquin Frabasil · Silvia Sokn · Consuelo Durand · Juan Politei · Andrea Schenone · Andrea Schenone
Three-year evaluation of intravenous and intrathecal treatment with HP-β-CD in a patient with Niemann-Pick disease type C1 Nita Patel · Priya S. Kishnani · Swati Sathe · Derek T. Dietze · Christopher Viereck · Jay Barth · Sheela Sitaraman · Sheela Sitaraman
Gaucher disease: French registry cohort of 58 patients treated with eliglustat Punita Gupta · Lorien Tambini King · Romana Kulikova · Romana Kulikova
The patient and clinician point of view: living with late-onset Pompe disease Rebecca Lehmann · Caitlin Selway · Sharon Byers · Ainslie Derrick Roberts · Ainslie Derrick Roberts
Aberrant heparan sulphate impairs mesenchymal stem cell proliferation and neurogenesis in mucopolysaccharidosis type IIIA Langis Michaud · Vasil Diaconu · Pierre Forcier · Pierre Forcier
Exosome-based delivery of glucocerebrosidase lysosomal enzyme for treatment of Gaucher disease Zoheb B. Kazi · Ankit K. Desai · Rebecca Martin · Frances Terry · William Martin · Anne S. De Groot · Priya S. Kishnani · Priya S. Kishnani
Optic nerve capillaries blood oxygenation investigation in Fabry disease patients Zhirui Jiang · Ainslie L.K. Derrick-Roberts · Sharon Byers · Sharon Byers
MPS VII mice display reduced circulating IGF1 and disrupted cell cycle progression in the growth plate Ulla Feldt-Rasmussen · Lis Hasholt · Martin Ballegaard · Michael Christiansen · Ian Law · Allan M. Lund · Anne Noerremoelle · Kirstine Ravn · Aase Krogh Rasmussen · Zeynep Tuemer · Henning Bundgaard · Henning Bundgaard
A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target? Amy Schadewald · Ericka Kimball · Li Ou · Li Ou
Tetrahydrobiopterin improves hippocampal nitric oxide-linked long-term memory Noémie Remacle · Patrick Forny · Hong-Phuc Cudré-Cung · Mary Gonzalez-Melo · Sónia do Vale-Pereira · Hugues Henry · Tony Teav · Hector Gallart-Ayala · Olivier Braissant · Matthias R. Baumgartner · Diana Ballhausen · Diana Ballhausen
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry Irene Slavc · Jessica L. Cohen-Pfeffer · Sridharan Gururangan · Jeanne Krauser · Daniel A. Lim · Marcos Maldaun · Christoph Schwering · Adam J. Shaywitz · Manfred Westphal · Manfred Westphal
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA Isabelle Rousseau-Nepton · Céline Huot · Diane Laforte · Elise Mok · Daphna Fenyves · Evelyn Constantin · John J. Mitchell · John J. Mitchell
Best practices for the use of intracerebroventricular drug delivery devices Shaukat Khan · Robert W. Mason · Roberto Giugliani · Kenji E. Orii · Toshiyuki Fukao · Yasuyuki Suzuki · Seiji Yamaguchi · Hironori Kobayashi · Tadao Orii · Shunji Tomatsu · Shunji Tomatsu
Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria Lance H. Rodan · Wanshu Qi · Gregory S. Ducker · Didem Demirbas · Regina Laine · Edward Yang · Melissa A. Walker · Florian Eichler · Joshua D. Rabinowitz · Irina Anselm · Gerard T. Berry · Gerard T. Berry
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability Valentina Brancaleoni · Francesca Granata · Pasquale Missineo · Silvia Fustinoni · Giovanna Graziadei · Elena Di Pierro · Elena Di Pierro
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination Christoph Wanner · Michael Arad · Ralf Baron · Alessandro P. Burlina · Perry M. Elliott · Ulla Feldt-Rasmussen · Victor V. Fomin · Dominique P. Germain · Derralynn Hughes · Ana Jovanovic · Ilkka Kantola · Ales Linhart · Renzo Mignani · Lorenzo Monserrat · Mehdi Namdar · Albina Nowak · João-Paulo Oliveira · Alberto Ortiz · Maurizio Pieroni · Marco Spada · Anna Tylki-Szymańska · Camilla Tøndel · Miguel Viana-Baptista · Frank Weidemann · Max J. Hilz · Max J. Hilz
Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP) Lilly S. Parr · Ganesh Sriram · Ganesh Sriram · Ramin Nazarian · Lola Rahib · Katrina M. Dipple · Katrina M. Dipple
Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB) Fabrice Camou · Monia Bengherbia · Céline Verstuyft · Jérôme Stirnemann · Nadia Belmatoug · Marc Berger · Marc Berger
The N215S Fabry disease mutation is not just acardiacvariant: Strong evidence of renal involvement Nina Movsesyan · Daniel S. Ory · Raymond Y. Wang · Raymond Y. Wang
Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: Results from two studies Jeffrey Y. Huang · Abhinav Grover · Anthony D. Rangel · Raymond Y. Wang · Raymond Y. Wang
Establishing the optimal tissue target for alpha-glucosidase gene delivery in Pompe disease Kultigin Turkmen · Nedim Yılmaz Selçuk · Halil Zeki Tonbul · İsmail Baloğlu · İsmail Baloğlu
QCSI (quantitative chemical shift imaging) for assessment of bone marrow involvement in patients with Gaucher disease Paul Harmatz · Christina Lampe · Rossella Parini · Reena Sharma · Elisa Leão Teles · Sara M. Hawley · Julie A. Johnson · Debbie Sivam · Zlatko Sisic · Zlatko Sisic
The 2-year follow-up results of lyso-GB3 levels in patients with Fabry disease Alejandra Rozenberg · Erik Lykken · Kaye Spratt · Timothy J. Miller · Steven J. Gray · Steven J. Gray
Mucopolysaccharidosis type VI enzyme replacement therapy initiated in adulthood: Findings from the MPS VI clinical surveillance program Zahra Bakhtiar · Joel Singh · Kara Anstett · Danika Anganoo · Heather Lau · Heather Lau
Combination dosing of CLN1 gene therapy extends lifespan in a mouse model of infantile neuronal ceroid lipofuscinosis Michael J. Przybilla · Li Ou · Chester B. Whitley · Chester B. Whitley
Utilizing CRISPR/Cas9 genome editing to generate a novel murine model of GM1 gangliosidosis Nicole Muschol · Maureen Cleary · María L. Couce · Adam J. Shaywitz · Heather Cahan · Anita Grover · Stephen M. Maricich · Andrew Melton · Lynn Smith · María José de Castro López · María José de Castro López
ICV-administered BMN 250 (NAGLU-IGF2) is well tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB) Melissa P. Wasserstein · Daniel Fein · Jessica Fischetti · Nicole Kelly · Na Lin · Chunli Yu · Chunli Yu
Systemic improvement in Niemann-Pick disease type B after liver transplantation Simon Arnett Jones · Suresh Vijay · Simona Fecarotta · Arunabha Ghosh · Kerstin Allen · Mark Friedman · Mark Friedman
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency Martino L. di Salvo · Mario Mastrangelo · Isabel Nogués · Manuela Tolve · Alessandro Paiardini · Carla Carducci · Davide Mei · Martino Montomoli · Angela Tramonti · Renzo Guerrini · Roberto Contestabile · Vincenzo Leuzzi · Vincenzo Leuzzi
Corrigendum toPyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation[Mol. Genet. Metab. 122/1–2 (2017) 135–142] Sergio R. Figueroa-Sauceda · Juan Vargas-Velazquez · Juan M. Romero-Trejo · Guillermo Valadez-Juvera · Guillermo Valadez-Juvera
An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease John T. Gray · Lucy James · Archana Belle · Garrett Heffner · Jennifer Ton · Jennifer Ton
Characterization of CRISPR-Cas9 generated Pompe disease models Tricia Cimms · Qais Abu Ali · Sarah Kilgariff · Chloe Johnson · Rob Arbuckle · Betsy Malkus · Andrea Schatz · Christine Haller · Christine Haller
Neurological manifestations in Fabry disease, series of 11 cases, from a high specialty medical unit, IMSS, Ciudad Obregon, Sonora, Mexico Alexander Solyom · Brendan Johnson · Alvin Shih · Alvin Shih
Qualitative research to characterize patients with galactosialidosis Claudia Cozma · Susanne Zielke · Marius Iurascu · Laura Demuth · Arndt Rolfs · Arndt Rolfs
Clinical study design for enzyme replacement therapy in acid ceramidase deficiency presenting as Farber disease, an ultra-rare condition with broad phenotypic heterogeneity Eric Gaukel · Christine M. Coquery · Brante Sampey · Edward H. Schuchman · Stephen A. Wring · Stephen A. Wring
Glucosylsphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations - data from a large global cohort Jeffrey D. Esko · Chrissa A. Dwyer · Shih-hsin Kan · Norah Al-Azzam · Bryan E. Thacker · Charles A. Glass · Patricia Dickson · Raymond Y. Wang · Philip L.S.M. Gordts · Philip L.S.M. Gordts
Impaired mitophagy causes brown adipose tissue activation and cachexia in Sanfilippo syndrome type A mice Karen Yee · William Kronenberger · Magdalena Harrington · Magdalena Harrington
Efficacy of systemic messenger RNA therapy to treat and prevent porphyria attacks in animal models of acute intermittent porphyria Jinlong Jian · Yuehong Chen · Rossella Liberti · Wenyu Fu · Wenhuo Hu · Rachel Saunders-Pullman · Gregory M. Pastores · Ying Chen · Chuan-ju Liu · Chuan-ju Liu
Chitinase-3-like protein 1: a novel biomarker for Gaucher disease Livia Paskulin · Vitória Schütt Zizemer · Filippo Pinto e Vairo · Ida V.D. Schwartz · Ida V.D. Schwartz
Taliglucerase-alpha and type 1 Gaucher disease: A five-year follow-up Asaka Katabuchi · Vivian Godoy · Priya Shil · Gustavo Maegawa · Gustavo Maegawa
Association between genotype, phenotype, and heat map assessments post enzyme replacement therapy in a highly heterogeneous MPS VII study population Ari Zimran · Michal Becker-Cohen · Shoshana Revel-Vilk · Mario Maas · Tama Dinor · Jeff Szer · Jeff Szer
Busulfan, fludarabine and ATG confers excellent survival in cord blood transplant for children with MPS IH Qais Abu Ali · Wenjie Song · Tricia Cimms · Chao-Yin Chen · Sean Daugherty · Chester B. Whitley · Raymond Y. Wang · Mislen Bauer · Paul Harmatz · Christine Haller · Christine Haller
Neuroradiological brain phenotype in mucopolysaccharidosis type II patients from 5 European countries Andrew Talbot · Kathy Nicholls · Moira Finlay · Moira Finlay
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement Aimee Donald · Simon Arnett Jones · Simon Arnett Jones
Knockout of human muscle genes revealed by large scale whole-exome studies Enrique Calderón · Vicente Friaza · Ignacio Marín · Rubén Morilla · Estefania Pereira · Fidel Moreno · Rafael Lopez · Luis Gimenez · Eduardo Andres · Carmen de la Horra · Carmen de la Horra
Chondrogenesis and osteogenesis are delayed by MPS IVA keratan sulphate but not normal keratan sulphate Amelia Ahern-Rindell · Amelia Ahern-Rindell
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: An international cohort study Wendy E. Heywood · Nina Patel · Ivan Doykov · Simon Heales · Derek Burke · Peter Clayton · Philippa B. Mills · James Davison · Maureen Cleary · Tenni Ruggero · Paul Gissen · Kevin Mills · Kevin Mills
Novel surgical reconstruction rescues life-threatening severe tracheal obstruction in mucopolysaccharidosis type IVA Atul Mehta · Zoya Panahloo · Maja Di Rocco · Ozlem Goker-Alpan · Derralynn Hughes · Andreas Kindmark · David J. Kuter · Elena Lukina · Kimitoshi Nakamura · Beatriz Oliveri · Jordi Pérez-López · Ida V.D. Schwartz · C. Serratrice · Jeff Szer · Ari Zimran · Gregory M. Pastores · Gregory M. Pastores
Menarche, menopause, and pregnancy data in untreated females and females treated with agalsidase alfa in the Fabry Outcome Survey Susanne Gustavsson · Susanne Gustavsson
Odiparcil is a promising substrate reduction therapy in MPS VI murine model Shunji Tomatsu · Christian Pizarro · Lauren W. Averill · Mary C. Theroux · Mary C. Theroux
Molecular diagnostic findings of lysosomal diseases in children and adults suspected to have inborn errors of metabolism Derralynn Hughes · Miguel-Ángel Barba Romero · Andrey Gurevich · Patrick Engrand · Roberto Giugliani · Roberto Giugliani
Natural history of cardiac findings in mucopolysaccharidosis type I: Report from an international registry Yuan-Yuan Ho · Laura Murillo · Daniel Beltran · Rachel Harte · Hannah White · Stacey Wong · Michelle Fox · Tom Winder · Britt Johnson · Britt Johnson
ConnectMPS registry project: Connecting mucopolysaccharidosis and mucolipidosis patients Zoltan Lukacs · Simona Murko · David C. Kasper · Cristiaan Wessels · Cristiaan Wessels
Galc ablation in Schwann cells produces a demyelinating peripheral neuropathy characterized by psychosine formation but lacking globoid cells Reena V. Kartha · James M. Joers · Marcia R. Terluk · Paul Tuite · Usha Mishra · Kyle Rudser · Gülin Öz · Jeanine Jarnes Utz · James C. Cloyd · James C. Cloyd
ZFN-mediated in vivo genome editing results in therapeutic levels of α-galactosidase A and effective substrate reduction in Fabry knockout mice Esther Noel · Rachel Mourot-Cottet · Emmanuel Andrès · Emmanuel Andrès
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease Shunji Tomatsu · Kazuki Sawamoto · Tokiko Sakai · Ikue Kitazawa · Hideyuki Futatsumori · Takehiko Nakamura · Takehiko Nakamura
Update on phase 1/2 clinical trials for MPS I and MPS II using ZFN-mediated in vivo genome editing Paul Harmatz · Chester B. Whitley · Raymond Y. Wang · Mislen Bauer · Wenjie Song · Christine Haller · Emil D. Kakkis · Emil D. Kakkis
Safety of enzyme replacement therapy to treat Hunter syndrome in children aged 5 years and under Patrício Aguiar · Olga Azevedo · Rui Pinto · Jacira Marino · Carlos Cardoso · José Luís Ducla Soares · Derralynn Hughes · Derralynn Hughes
A comparison of stem cell transplant versus enzyme replacement therapy in infants with MPS II Nathan Grant · Laurie Bailey · Carlos E. Prada · Carlos E. Prada
Establishing genotype-phenotype corrleation of lysosomal diseases with in silico tools Shauna Kearney · Catherine Stewart · Alice Stewart · Julian Raiman · Saikat Santra · Saikat Santra
Identification of a novel GLA mutation in a family with classical phenotype of Fabry disease Mark Dant · Jill Wood · Stuart Sideman · Vanessa Rangel Miller · Jo Anne Vidal · Jo Anne Vidal
Disease epidemiology and prevalence of neurological manifestations in neuronopathic Gaucher disease: Comprehensive review of the literature Li Ou · Michael J. Przybilla · Chester B. Whitley · Chester B. Whitley
Ocular pathology and visual impairment in a mouse model of acid ceramidase deficiency Marshall W. Huston · Makiko Yasuda · Silvere Pagant · Susan St Martin · Scott Sproul · Russell DeKelver · Michael C. Holmes · Robert J. Desnick · Thomas Wechsler · Thomas Wechsler
A Gaucher type III patient with a homozygous p.D409H mutation and chronic inflammatory bowel disease Luba Nalysnyk · Jungyoon Moon · Bhagyashree Oak · Angeles Brooks · Angeles Brooks
Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening Fabian P.S. Yu · Ben Sajdak · Jakub Sikora · Alex E. Salmon · Iris S Kassem · Daniel M. Lipiniski · Joseph Carroll · Jeffrey A. Medin · Jeffrey A. Medin
Five years of clinical data in a direct to CNS gene therapy trial to address the severe lethal neurological manifestations of MPS IIIA Anja F. Koehn · Katharina Stumpfe · Sebastian Ulrich · Sebastian Schulz-Jürgensen · Nicole Muschol · Nicole Muschol
Substrate degradation enzyme therapy (SDET) for mucopolysaccharidosis type IVA Iris Alroy · Meytal Shohat · Idit Eshkar-Oren · Pedro Huertas · Pedro Huertas
Use of epilepsy gene panels for early diagnosis of epilepsy in children 2-4 years of age: expert considerations on current and future practices in Europe Sergei M. Danilov · Sergei M. Danilov · Victoria E. Tikhomirova · Roman Metzger · Irina A. Naperova · Tatiana M. Bukina · Ozlem Goker-Alpan · Nahid Tayebi · Nurshat M. Gayfullin · David E. Schwartz · Larisa M. Samokhodskaya · O. A. Kost · Ellen Sidransky · Ellen Sidransky
Translational read-through of CTNS nonsense mutations and attenuation of CTNS nonsense-mediated mRNA decay by ELX-02 treatment Cecile Freihuber · Bahia Dahmani · Anais Brassier · Pierre Broué · Claude Cances · Brigitte Chabrol · Didier Eyer · Fancois Labarthe · Philippe Latour · Thierry Levade · Samia Pichard · Caroline Sevin · Marie T. Vanier · Bénédicte Héron · Bénédicte Héron
Infusion-related reactions in patients with mucopolysaccharidosis type II on idursulfase enrolled in the Hunter Outcome Survey (HOS) Juan Politei · Consuelo Durand · Andrea Schenone · Andrea Schenone
Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts Chester B. Whitley · Suresh Vijay · Bert Yao · Mercè Pineda · Geoff J.M. Parker · Amy Cinar · Yang Dai · Maria L. Escolar · Maria L. Escolar
Lessons learned after 5 years of treatment in adult patient with MPS VI. ERT, spinal decompression and home infusion therapy: A triangle for success? Dawn Laney · Morgan F. Simmons · Morgan F. Simmons
Final results of the first-in-human open-label study of intravenous SBC-103 in children with mucopolysaccharidosis type IIIB Julie Eisengart · Weston P. Miller · Alex Kaizer · Kyle Rudser · Kelly King · Richard Ziegler · Elizabeth I. Pierpont · Chester B. Whitley · Gerald V. Raymond · Jakub Tolar · Troy C. Lund · Elsa Shapiro · Paul J. Orchard · Paul J. Orchard
ThinkGenetic: A pilot project to create an educational website/application providing increased access to information on accurate natural history, diagnosis, and treatment information with treatable genetic disorders to healthcare providers Minako Kobayashi · Tatsuyoshi Yamamoto · Mariko Yamaoka · Teiji Tomio · Teiji Tomio
Neurocognitive outcomes of intrathecal enzyme replacement therapy and transplant in Hurler syndrome Aimee Donald · Derralynn Hughes · Elin Haf Davies · Tanya Collin-Histed · Tanya Collin-Histed
Neuronopathic Gaucher disease; patient association takes the lead to improve awareness and encourage collaborative working Alaa Hamed · Nupur Greene · Chad Gwaltney · Chad Gwaltney
Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio syndrome type A: Results from the first year of a managed access agreement in England Henrique Lage Ferreira Ferrer · João Bosco Pesquero · Patricia Varela · Carolina Aranda · Ana Maria Martins · Ana Maria Martins
Fabry disease symptoms and impacts on daily life − A conceptual model Nadav Weinstock · Daesung Shin · Ernesto R. Bongarzone · Duc Nguyen · Nicholas Silvestri · Lawrence Wrabetz · M. Laura Feltri · M. Laura Feltri
Initiation of enzyme replacement therapy for paediatric Fabry disease: Review of single centre practice and experience Sophie Olivier · Alice le Meur · Kumaran Deiva · Kumaran Deiva
Management guidelines for infantile onset lysosomal acid lipase deficiency (LALD) Shunji Tomatsu · Molly Stapleton · Nivethitha Arunkumar · Robert W. Mason · Tadao Orii · Tadao Orii
High-throughput assay development for Niemann-Pick disease type A small molecule therapeutics Alexander Rodríguez-López · Luisa N. Pimentel-Vera · Angela J. Espejo-Mojica · Oscar A. Hidalgo · Shunji Tomatsu · Carlos J. Alméciga-Díaz · Carlos J. Alméciga-Díaz
Feasibility of wearable technologies as an outcome measure in neuronopathic Gaucher disease (nGD) David W. Stockton · Suma P. Shankar · Kristina An Haack · Yixin Chen · Barry J. Byrne · Barry J. Byrne
Recombinant N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme produced in pichia pastoris as an alternative for Morquio syndrome type A ERT Elise Holmes · Kristi Bentler · Amy Gaviglio · Anthony Steyermark · Jelili Ojodu · Jelili Ojodu
Long-term study of growth and development outcomes in patients with infantile-onset Pompe disease receiving alglucosidase alfa: Safety data update Natalia Gomez-Ospina · Samantha Glynne Scharenberg · Sruthi Mantri · Carmencita Nicolas · Rasmus O. Bak · Matthew H. Porteus · Matthew H. Porteus
Minnesota Department of Health long-term follow-up of newborn screening conditions: New applications for Pompe disease and MPS I Dena Matalon · Patricia Dougherty · Lauren Lulis · Livija Medne · Ian D. Krantz · Sabrina W. Yum · Can Ficicioglu · Can Ficicioglu
Engineering blood stem cells for autologous transplants for lysosomal diseases: Correction of mucopolysaccharidosis type I using genome-edited hematopoietic stem and progenitor cells David J. Kuter · Michael P. Wajnrajch · Betina Hernandez · Li-Jung Tseng · Raul Chertkoff · Raul Chertkoff
The diagnosis and natural history of mucopolysaccharidosis type IVA in one family Deborah Ramsdell · Deborah Ramsdell
Open-label expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapy Simon Arnett Jones · Moeenaldeen Al-Sayed · Alexander Broomfield · F.J. White · Jane Roberts · Suresh Vijay · Hoiyee Wu · Javier de las Heras · Heather J. Church · Francjan J. van Spronsen · Gulden Gokcay · Miika Arvonen · John Jay Gargus · Mordechai Slae · Arunabha Ghosh · Arunabha Ghosh
Metabolomics profiling of mice and patients with Sandhoff disease to identify biomarkers Heather Lau · Elena Lukina · Nora Watman · Marta Dragosky · Elsa Avila Arreguin · Hanna Rosenbaum · Yaoshi Wu · Sebastiaan J.M. Gaemers · M. Judith Peterschmitt · M. Judith Peterschmitt
Intravenous and intranasal genome editing using the CRISPR/Cas9 system leads to long-term improvements in MPS I mice Thomas Wechsler · Russell DeKelver · Kanut Laoharawee · Li Ou · Susan Tom · Robert Radecke · Scott Sproul · Brenda Koniar · Kelly Podetz-Perdersen · Renee Cooksley · Kathleen Meyer · Scott McIvor · Whitley Chester · Michael C. Holmes · Michael C. Holmes
Gaps and opportunities in MPS/ML for small rare disease companies to address Kirill Gorshkov · Miao Xu · Shu Yang · Manisha Pradhan · Wei Zheng · Wei Zheng
Design, baseline characteristics, and early findings of the MPS IIIA (mucopolysaccharidosis type IIIA) clinical observational study Jörn Oliver Sass · Sema Kalkan Uçar · Clara van Karnebeek · Clara van Karnebeek
Genotype-phenotype correspondence in mucopolysaccharidosis type I and the implications for newborn screening Simon Körver · Mirjam Langeveld · Gert J. Geurtsen · Ivo N. van Schaik · Laura van Dussen · Carla E. M. Hollak · Carla E. M. Hollak
Subjective cognitive complaints and symptoms of depression are highly prevalent in Fabry disease and are not related to objective cognitive impairment Miranda N. Williams · Jeffrey P. Kirscher · Jeffrey P. Kirscher
Integrated approaches for Fabry disease biomarker discovery and qualification Natalja Haninger-Vacariu · Sarah El-Hadi · Udo Pauler · Marina Foretnik · Renate Kain · Alice Schmidt · Nina Skuban · Jay Barth · Gere Sunder-Plassmann · Gere Sunder-Plassmann
Pregnancy outcome after exposure to migalastat: A case study Chen Wu · Takeo Iwamoto · Hiroko Yanagisawa · Keiko Akiyama · Takashi Miyajima · Junko Igarashi · Mohammad Arif Hossain · Yoshikatsu Eto · Yoshikatsu Eto
Hypertransaminasaemia in children with mucopolysaccharidoses Aimee Donald · Elin Haf Davies · Tanya Collins-Histed · Tanya Collins-Histed
Clinical and neurophysiological assessments of an infant with acute neurovisceral acid sphingomyelinase deficiency Liliya A. Osipova · Ludmila Kuzenkova · Tatyana Podkletnova · Leyla Namazova-Baranova · Elena L. Semikina · Elena L. Semikina
Combination of lysosphingomyelin, 7-ketocholesterol and bile acid W for diagnosis of Japanese patients with Niemann Pick disease type C by MS/MS Torayuki Okuyama · Motomichi Kosuga · Takashi Hamazaki · Haruo Shintaku · Joo-Hyun Seo · Joo-Hyun Seo
Respiratory muscle training in Pompe disease Kelly George · Rena Baek · Monica Lane · Martha Stapels · M.A. Xiwen · Mahmud Hossain · Pavlina Wolf · Milca Mercado-Olivieri · Petra Oliva · Kate Zhang · Alison McVie-Wylie · Alison McVie-Wylie
Long-term treatment response based on severity of Gaucher disease type 1 at baseline after 8 years of treatment with oral eliglustat: Final efficacy and safety results from a phase 2 clinical trial in treatment-naïve adult patients Michelle Wood · Nicole Williams · James E. Davison · Maureen Cleary · Deborah M. Eastwood · Deborah M. Eastwood
Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial James E. Davison · Anupam Chakrapani · Anupam Chakrapani
Proteolytic immuno-SRM-MSMS in dried blood spots to determine immunogenicity in patients with infantile Pompe disease Li Ou · Michael J. Przybilla · Chester B. Whitley · Chester B. Whitley
A case report of successful treatment of patient experiencing infusion associated reactions with sebelipase alfa Alberto Ortiz · Dominique P. Germain · Robert J. Desnick · Juan Politei · Michael Mauer · Alessandro P. Burlina · Christine M. Eng · Robert J. Hopkin · Robert J. Hopkin · Dawn Laney · Ales Linhart · Stephen Waldek · Eric Wallace · Frank Weidemann · William R. Wilcox · William R. Wilcox
A case with Pallister-Killian syndrome misdiagnosed as mucopolysaccharidosis Valynne Long · Hong Li · Kiran Patel · Vickie Malloy · Vickie Malloy
Comprehensive exploratory study to identify novel biomarkers of Pompe disease Albina Nowak · Robert J. Desnick · Robert J. Desnick
Therapeutic goals in Fabry disease: European expert consensus recommendations based on current clinical evidence Neslihan Önenli Mungan · Sebile Kılavuz · Derya Bulut · Deniz Kör · Berna Seker Yilmaz · Serdar Ceylaner · Serdar Ceylaner
Evaluation of an investigational product for the measurement of enzyme activity related to lysosomal disorders Christoph Wanner · Dominique P. Germain · Max J. Hilz · Marco Spada · Perry M. Elliott · Perry M. Elliott
Cognitive abilities of dogs with mucopolysaccharidosis type I: Learning and memory Sean Ekins · Jenny J. Klein · Jill Wood · Jill Wood
Plasma lyso-Gb3 as a diagnostic marker for Fabry disease Harrison N. Jones · Kelly D. Crisp · Jill Marcus · Milisa Batten · Ashley Edds · Lisa D. Hobson-Webb · Maragatha Kuchibhatla · Priya S. Kishnani · Priya S. Kishnani
The importance of astrocytes in the pathophysiology of GBA1-associated Parkinson disease Roan Louw · Izelle Smuts · Kimmey-Li Wilsenach · Lindi-Maryn Jonck · Maryke Schoonen · Francois H. van der Westhuizen · Francois H. van der Westhuizen
The dilemma of diagnosing coenzyme Q10 deficiency in muscle Lena R. Provoost · Carlo Siracusa · Yan Che · Mingyao Li · Margret L. Casal · Margret L. Casal
Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening Jessica Fischetti · Jules Beal · Abdulrazak Alali · Laura Tocci · Lisa Schulman · Nicole Kelly · Melissa P. Wasserstein · Melissa P. Wasserstein
Pharmacology of BMN 250 administered via intracerebroventricular infusion once every 2 weeks for twenty-six weeks or longer in a canine model of mucopolysaccharidosis type IIIB Samia Pichard · Oriane Mercati · Juliette Bouchereau · Marie Ouachee · Roseline Froissart · Odile Fenneteau · Bastien Roche · Monique Elmaleh · Yves Bertrand · Hélène Ogier de Baulny · Marie T. Vanier · Manuel Schiff · Manuel Schiff
Generation of neurologically relevant disease-cell models for lysosomal diseases Erk Changsila · Margarita Ivanova · Ozlem Goker-Alpan · Ozlem Goker-Alpan
Fabry disease: Multi-disciplinary evaluation after 15 years of treatment with agalsidase beta Allison L. Warwick · Allison L. Warwick
Pulmonary repercussions in patients with Fabry disease Vyacheslav Furtak · Margarita Ivanova · Ozlem Goker-Alpan · Ozlem Goker-Alpan
Mouse macrophage model of Gaucher disease for evaluating non-inhibitory chaperone candidates Christine I. Dali · Line Borgwardt · Allan M. Lund · Federica Cattaneo · Diego Ardigò · Silvia Geraci · Nicole Muschol · Yasmina Amraoui · Anna Tylki-Szymańska · Frits A. Wijburg · Johanna Mp Van Den Hout · Mercedes Gil-Campos · Nathalie Guffon · Simon Arnett Jones · Paul Harmatz · Paul Harmatz
DNAJC12: A molecular chaperone involved in proteostasis, PKU, biogenic amines metabolism and beyond? Jenny Serra-Vinardell · Brad Davidson · Elma Aflaki · Barbara K. Stubblefield · Grisel Lopez · Daniel Grinberg · Lluïsa Vilageliu · Ellen Sidransky · Ellen Sidransky
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial Laurie Smith · William J. Rhead · Joel Charrow · Suma P. Shankar · Suma P. Shankar · Ashish Bavdekar · Nicola Longo · Rebecca Mardach · Paul Harmatz · Thomas N. Hangartner · Hak-Myung Lee · Gregory M. Pastores · Gregory M. Pastores
Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse Nenad Blau · Aurora Martinez · Georg F. Hoffmann · Beat Thöny · Beat Thöny
Collaborative working to advance standards of care and the well-being of lysosomal disorder patients and families in the UK Hiroyuki Yamakawa · Yoshiyasu Aisawa · Shinsuke Yuasa · Takahiro Tsukimura · Tadayashu Ukawa · Hitoshi Sakuraba · Motoaki Sano · Keiichi Fukuda · Keiichi Fukuda
Survey of quality of life, phenotypic expression and response to treatment in patients with Krabbe leukodystrophy Arunabha Ghosh · Kirk Aleck · Miika Arvonen · Alexander Broomfield · Simona Fecarotta · John Jay Gargus · Gulden Gokcay · Javier de las Heras · Victoria Holmes · Rosie Jones · Mordechai Slae · Francjan Van Spronson · Suresh Vijay · Simon Arnett Jones · F.J. White · F.J. White
Correlation between bone disease and genotype in type 1 Gaucher disease: data from Spanish Gaucher disease registry Yewande Pearse · Don Clarke · Kan Shih-hsin · Steven Q. Le · Valentina Sanghez · Jonathan D. Cooper · Patricia Dickson · Michelina Iacovino · Michelina Iacovino
Bone lesions in type 1 Gaucher disease after improving dose and compliance with imiglucerase Caroline Sevin · Thomas Roujeau · Nathalie Cartier · Thomas Baugnon · Catherine Adamsbaum · Monique Piraud · Sabata Martino · Philippe Mouiller · Célia Couzinié · Céline Bellesme · Clémence Castaignède Lalande · Carine Cormary · Mark M. Souweidane · Marie-Anne Colle · Oumeya Adjali · Dolan Sondhi · Ronald G. Crystal · Patrick Aubourg · Michel Zerah · Michel Zerah
A Drosophila model of multiple sulfatase deficiency Brian C. Netzel · Dimitar Gavrilov · Dietrich Matern · Devin Oglesbee · Kimiyo Raymond · Piero Rinaldo · Silvia Tortorelli · Matthew Schultz · Matthew Schultz
Intracerebral gene therapy in children with metachromatic leukodystrophy: Results of a phase I/II trial Virginia E. Kimonis · Emily Curtin · Daisy Tapia · Kathryn Hall · Jousef Alandy-Dy · Margaret Knight · Madeleine V. Pahl · Dawn Lombardo · Dawn Lombardo
PPS beyond MPS: Efficacy in Fabry and Gaucher in vitro studies Claudia Cozma · Marius Iurascu · Gabriela Oprea · Jan Lukas · Susanne Zielke · Anne-Katrin Giese · Arndt Rolfs · Arndt Rolfs
Pharmacokinetics, pharmacodynamics, and safety of moss agalactosidase A in patients with Fabry disease Hermann Mascher · Benedikt Schoser · Stephan Wenninger · Stephan Wenninger
Positive newborn screening results for late onset conditions: The clinicians dilemma Kyungsun Choi · Hojun Choi · Nambin Yim · Seung-Wook Ryu · Chulhee Choi · Chulhee Choi
A prediction model to identify infantile Pompe disease (IPD) patients at high-risk of developing significant anti-drug antibodies (ADA) utilizing acid α-glucosidase (GAA ) variants and HLA-type Hua Wang · Klaas J. Wierenga · Klaas J. Wierenga
Spectrum of lysosomal disorders at a medical genetics center in the central part of the United States Claude-Henry Volmar · Olaf A. Bodamer · Marshall Hayward · Claes Wahlestedt · Claes Wahlestedt
The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families Eric Gaukel · Christine M. Coquery · Brante Sampey · Edward H. Schuchman · Stephen A. Wring · Stephen A. Wring
Novel small molecule therapy development for MPS I Michelle Wood · Maureen Cleary · Deborah M. Eastwood · Deborah M. Eastwood
Toe walking in the mucopolysaccharides: Does it matter? Olaf A. Bodamer · Aishwarya Devarajan · Stephanie Sacharow · Leah Hecht · Amy Kritzer · Amy Kritzer
Optimizing cystine depleting therapy in nephropathic cystinosis: Two case reports Laura López de Frutos · Jorge J. Cebolla · Pilar Irún · Ralf Köhler · Pilar Giraldo · Pilar Giraldo
Screening of Fabry disease in male hemodialysis patients: Prevalence and mutations found in Argentina Arndt Rolfs · Marius Iurascu · Marina Hovakimyan · Susanne Zielke · Claudia Cozma · Claudia Cozma
Early initiation of enzyme replacement therapy in pediatric Fabry disease Rebecca C. Ahrens-Nicklas · Luis Tecedor · Emma Banwell · Elena S. Lysenko · Beverly L. Davidson · Eric D. Marsh · Eric D. Marsh
Screening for biomarkers of Farber disease using C26 using mass spectrometry Daesung Shin · Nadav Weinstock · Laura Feltri · Lawrence Wrabetz · Lawrence Wrabetz
Neuronal network dysfunction in juvenile neuronal lipofuscinosis Sabrina Nordin · Rebecca Kozor · Shanat Baig · Elaine Murphy · Robin H. Lachmann · Atul Mehta · Nicola C. Edwards · Uma Ramaswami · Richard P. Steeds · Derralynn Hughes · James C. Moon · James C. Moon
Temporal Galc deletion reveals a critical vulnerable period in the pathogenesis of Krabbe leukodystrophy Jonathan W. Mink · Miriam Nickel · Eva Wibbeler · Christoff Schwering · Angela Schulz · Angela Schulz
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis Silvia Radenkovic · Peter Witters · Eva Morava · Eva Morava · Eva Morava
Proposed stages of phenotype development in cardiac Fabry disease: A prospective 182-patient study by cardiovascular magnetic resonance Coleman T. Turgeon · Amy L. White · Dawn Peck · Gessi Bentz Pino · April Studinksi · Joseph J. Orsini · Michael H. Gelb · M. Christine Dorley · Joan E. Pellegrino · Ai Sakonju · Vinod K. Prasad · Joanne Kurtzberg · Devin Oglesbee · Dimitar Gavrilov · Silvia Tortorelli · Piero Rinaldo · Kimiyo Raymond · Dietrich Matern · Dietrich Matern
The unified Batten disease rating scale (UBDRS): Validation and reliability in an independent sample Ilkka Kantola · Antti-Pekka Annala · Agneta Ekstrand · Tiina Heliö · Aki Hietaharju · Taru Kantola · Kristiina Kananen · Anne Karhu · Jorma O. Kokkonen · Johanna Kuusisto · Päivi Pietilä-Effati · Miia Rainto · Jukka T. Saarinen · Lorenzo Sandini · Olavi Ukkola · Jyrki Taurio · Pentti J. Tienari · Susanne Walls · Kati Valtola · Kati Valtola
Psychosine: A useful biomarker for newborn screening, follow up and monitoring of Krabbe disease Abdelkrim Berrah · Djennette Hakem · Djennette Hakem
Deterioration in ECG parameters in Fabry females and males treated by enzyme replacement therapy either for 5 or 10 years Konstantinos Koulousios · Konstantinos Stylianou · Christos Katsinas · John Kyriazis · Parthena Kyriklidou · Katerina Lysitska · Maria Zamanakou · Gedeon Loules · Anastasios E. Germenis · Anastasios E. Germenis
Comorbidities in Gaucher disease Barbara K. Smith · Shannon Allen · Elizabeth Lee Kugelmann · Daniel Martin · Barry J. Byrne · Barry J. Byrne
Novel pathogenic GLA mutations revealed in a Greek population study for Fabry disease Kwangchae Yoon · Chester B. Whitley · Jeanine Jarnes · Jeanine Jarnes
Compensatory responses to unexpected inspiratory loads are distinct from clinical tests of respiratory capacity Derralynn Hughes · Pilar Giraldo · Myrl Holida · Ozlem Goker-Alpan · Gustavo Maegawa · Raphael Schiffmann · Sari Alon · Margarita Filipovich · Mali Szlaifer · Einat Brill-Almon · Raul Chertkoff · Raul Chertkoff
Natural history of late-infantile Krabbe disease John Jay Gargus · Virginia E. Kimonis · Cherry Uy · Merhdad Jalili · Rachel L. Nguyen · Samantha Reiter-Akhavan · Marie Wencel · Robert A. Edwards · Robert A. Edwards
Sudden-death of infant with lysosomal acid lipase deficiency successfully completing sebelipase alfa clinical trial Martine Uittenbogaard · Christine A. Brantner · ZiShui Fang · Lee-Jun C. Wong · Andrea Gropman · Anne Chiaramello · Anne Chiaramello
Anti-drug antibody response in mucopolysaccharidosis type I patients treated with AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein Laura Pollard · Rongrong Huang · Tim Wood · Tim Wood
Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial Antoine Legendre · Diala Khraiche · Phalla Ou · François-Xavier Mauvais · François-Xavier Mauvais · Marine Madrange · Anne-Sophie Guemann · Jean-Philippe Jais · Damien Bonnet · Yamina Hamel · Pascale de Lonlay · Pascale de Lonlay
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria Roeland A.F. Evers · Annemiek M. J. van Wegberg · Annemiek M. J. van Wegberg · Esther van Dam · Maaike C. de Vries · M. Janssen · Francjan J. van Spronsen · Francjan J. van Spronsen
X-linked adrenoleukodystrophy Tatiana Tarasenko · Kristina Cusmano-Ozog · Peter J. McGuire · Peter J. McGuire
Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients Nastassja Himmelreich · Nan Shen · Nan Shen · Jürgen G. Okun · Christian Thiel · Georg F. Hoffmann · Nenad Blau · Nenad Blau
Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection Shahzeb Hassan · Grisel Lopez · Barbara K. Stubblefield · Nahid Tayebi · Ellen Sidransky · Ellen Sidransky
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria Ayman W. El-Hattab · Ana Zarante · Mohammed Almannai · Mohammed Almannai · Fernando Scaglia · Fernando Scaglia · Fernando Scaglia
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease Tord D. Alden · Hernán Amartino · Amauri Dalla Corte · Christina Lampe · Paul Harmatz · Leonardo Modesti Vedolin · Leonardo Modesti Vedolin
Critical review of current MPS guidelines and management Benjamin L. Farah · Dustin J. Landau · Yajun Wu · Rohit A. Sinha · Alwin Loh · Boon-Huat Bay · Dwight D. Koeberl · Paul M. Yen · Paul M. Yen · Paul M. Yen
Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice Sarah Viall · Omar B. Ayyub · Matthew Rasberry · Kelly Lyons · Nicholas Ah Mew · Nicholas Ah Mew
A case of a 50-year-old woman with classic Fabry disease who showed serial electrocardiographic and echocardiographic changes for 17 years Langis Michaud · Langis Michaud
DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias Ruqaiah Altassan · Ruqaiah Altassan · Peter Witters · Zubaida Saifudeen · Dulce Quelhas · Jaak Jaeken · Elena Levtchenko · David Cassiman · Eva Morava · Eva Morava · Eva Morava
Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved Omar Ramos-Lopez · José Ignacio Riezu-Boj · Fermín I. Milagro · J. Alfredo Martínez · J. Alfredo Martínez
DNA methylation signatures at endoplasmic reticulum stress genes are associated with adiposity and insulin resistance Li Ou · Michael J. Przybilla · Brenda Koniar · Chester B. Whitley · Chester B. Whitley
Cardiac function and exercise adaptation in 8 children with LPIN1 mutations Suraj D. Serai · Suraj D. Serai · Anjani P. Naidu · T. Andrew Burrow · T. Andrew Burrow · Carlos E. Prada · Stavra A. Xanthakos · Alexander J. Towbin · Alexander J. Towbin
Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis Miguel Sampayo-Cordero · Bernat Miguel-Huguet · Almudena Pardo-Mateos · Marc Moltó-Abad · Cecilia Muñoz-Delgado · Jordi Pérez-López · Jordi Pérez-López
Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients A. Schänzer · S. Rupp · S. Gräf · D. Zengeler · C. Jux · H. Akintürk · L. Gulatz · N. Mazhari · T. Acker · R. Van Coster · B.K. Garvalov · B.K. Garvalov · A. Hahn · A. Hahn
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases Lisbeth Birk Møller · Bitten Schönewolf-Greulich · Thomas Rosengren · Lasse Jonsgaard Larsen · John R. Østergaard · Mette Sommerlund · C. Ostenfeldt · Brian Stausbøl-Grøn · Karen Markussen Linnet · Pernille Axel Gregersen · Uffe Birk Jensen · Uffe Birk Jensen
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3 Valérie Decostre · P. Laforêt · Marie De Antonio · Kahina Kachetel · Aurélie Canal · Gwenn Ollivier · Aleksandra Nadaj-Pakleza · François Petit · Karim Wahbi · Abdallah Fayssoil · Bruno Eymard · Anthony Behin · Philippe Labrune · Jean-Yves Hogrel · Jean-Yves Hogrel
Corrigendum toDevelopment of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex[Mol. Genet. Metab. 120(4) (Apr 2017) 384–391] Yael Wilnai · Yair J. Blumenfeld · Kristina Cusmano · Susan R. Hintz · Deborah Alcorn · William E. Benitz · William E. Berquist · Jonathan A. Bernstein · Ricardo O. Castillo · Waldo Concepcion · Tina M. Cowan · Kenneth L. Cox · Deirdre J. Lyell · Carlos O. Esquivel · Margaret Homeyer · Louanne Hudgins · Melissa Hurwitz · Jonathan P. Palma · Susan Schelley · Vishnu Priya Akula · Marshall Summar · Gregory M. Enns · Gregory M. Enns
Prenatal treatment of ornithine transcarbamylase deficiency Jonathan D. Cooper · Marta Tarczyluk · Allison Najafi · Chris Salzlechner · Ming Lim · David A. Pearce · David L. Smith · F M Platt · Brenda P. Williams · Brenda P. Williams
Testing combinatorial therapies for juvenile Batten disease: Lysosome (2018) Stacy Hewson · Margaret Mackrell · Michelle Mecija · Michal Inbar-Feigenberg · Michal Inbar-Feigenberg
Attenuated mucopolysaccharidosis type VI: The need for a high index of suspicion Nicholas Bascou · Maria Marcos · Mercedes C. Roosen-Marcos · Michele D. Poe · Maria L. Escolar · Maria L. Escolar
A multidisciplinary approach to the transition of adolescents with a lysosomal disorder from a pediatric to an adult health care centre Elsa Shapiro · Jennifer L. Greenberg · Mark Dant · Christine Lavery · Johanna van der Lee · Darren Janzen · Kathleen R. Delaney · Brian Bigger · Brian Bigger
Anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy undergoing general anesthesia Joseph Muenzer · Barbara K. Burton · Paul Harmatz · Luis González Gutiérrez-Solana · Matilde Ruiz-Garcia · Simon Arnett Jones · Nathalie Guffon · Michal Inbar-Feigenberg · Drago Bratkovic · Yuna Wu · David Alexanderian · David Alexanderian
A consensus conference for cognitive endpoints for clinical trials and natural history studies in MPS diseases Mathias Schmidt · Ruben J. Boado · Roberto Giugliani · William M. Pardridge · William M. Pardridge
Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease An-Guor Wang · An-Guor Wang
The ATP-stimulated translocation promoter (ASTP) activity of glycerol kinase plays central role in adipogenesis Matthew C. Reed · Capucine Schiffer · Simon Heales · Atul Mehta · Derralynn Hughes · Derralynn Hughes
Does infusion time have effect on the efficacy of the enzyme Xinying Hong · Arun Babu Kumar · C. Ronald Scott · Michael H. Gelb · Michael H. Gelb
Universal newborn screening: A roadmap for action Carlos R. Ferreira · Carlos R. Ferreira · S.M.I. Goorden · A Soldatos · Heather M. Byers · J.M.M. Ghauharali-van der Vlugt · F.S. Beers-Stet · Catherine Groden · C D van Karnebeek · William A. Gahl · Frédéric M. Vaz · Xuntian Jiang · H J Vernon · H J Vernon
Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome Donna L. Bernstein · Steven J. Lobritto · Alina C. Iuga · Helen Remotti · Thomas D. Schiano · Maria Isabel Fiel · Manisha Balwani · Manisha Balwani
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers Prism investigators · Prism investigators
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients Suhail Khoja · Matt Nitzahn · Kip Hermann · Brian Truong · Roberta Borzone · Brandon Willis · Mitchell Rudd · Donna Palmer · Philip Ng · Nicola Brunetti-Pierri · Gerald S. Lipshutz · Gerald S. Lipshutz
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM) Tiziana Pascucci · Luigia Rossi · Marco Colamartino · Claudia Gabucci · Claudia Carducci · Alessandro Valzania · Valeria Sasso · Noemi Bigini · Francesca Pierigè · Maria Teresa Viscomi · Rossella Ventura · Simona Cabib · Mauro Magnani · Stefano Puglisi-Allegra · Vincenzo Leuzzi · Vincenzo Leuzzi
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy Christoph Wanner · Dominique P. Germain · Max J. Hilz · Marco Spada · Bruno Falissard · Perry M. Elliott · Perry M. Elliott
A new therapy prevents intellectual disability in mouse with phenylketonuria Stephanie A.K. Angarita · Brian Truong · Suhail Khoja · Matthew Nitzahn · Abha K. Rajbhandari · Irina Zhuravka · Sergio Duarte · Michael G. Lin · Alex K. Lam · Stephen D. Cederbaum · Gerald S. Lipshutz · Gerald S. Lipshutz
Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy Jordi Pérez-López · M. Moltó-Abad · C. Muñoz-Delgado · Montserrat Morales-Conejo · Leticia Ceberio-Hualde · M. del Toro · M. del Toro
Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice Kenichi Hongo · Keiichi Ito · Taro Date · Ikuko Anan · Yasunori Inoue · Satoshi Morimoto · Kazuo Ogawa · Makoto Kawai · Hiroshi Kobayashi · Masahisa Kobayashi · Hiroyuki Ida · Toya Ohashi · Ikuo Taniguchi · Michihiro Yoshimura · Yoshikatsu Eto · Yoshikatsu Eto
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature Mugdha Rairikar · Laura E. Case · Lauren Bailey · Zoheb B. Kazi · Ankit K. Desai · Kathryn L. Berrier · Julie Coats · Rachel Gandy · Rebecca Quinones · Priya S. Kishnani · Priya S. Kishnani
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients Paula Rozenfeld · Sandro Feriozzi · Sandro Feriozzi
Natural history of echocardiographic abnormalities in mucopolysaccharidosis III C.P. Howson · B. Cedergren · Roberto Giugliani · P. Huhtinen · Carmencita D. Padilla · C.S. Palubiak · M.D. Santos · Ida Vanessa Doederlein Schwartz · Bradford L. Therrell · A. Umemoto · J. Wang · X. Zeng · X. Zhao · N. Zhong · Edward R.B. McCabe · Edward R.B. McCabe
Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice Julia Wang · Emily Kim · Honzheng Dai · Vikki A. Stefans · Hannes Vogel · Fatma Al Jasmi · Samantha A. Schrier Vergano · Diana Castro · Saunder Bernes · Vikas Bhambhani · Catherine Long · Ayman W. El-Hattab · Lee-Jun C. Wong · Lee-Jun C. Wong
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect Paul Harmatz · Federica Cattaneo · Diego Ardigò · Silvia Geraci · Julia B. Hennermann · Nathalie Guffon · Allan M. Lund · Christian J. Hendriksz · Christian J. Hendriksz · Line Borgwardt · Line Borgwardt
European expert consensus statement on therapeutic goals in Fabry disease Alexandra Latini · Lucila de Bortoli da Silva · Débora da Luz Scheffer · Ananda Christina Staats Pires · Filipe José de Matos · Renata T. Nesi · Karina Ghisoni · Roberta de Paula Martins · Paulo Alexandre de Oliveira · Rui Daniel Prediger · Marisa Ghersi · Laura Gabach · Mariela F Pérez · Susana Rubiales-Barioglio · Rita Raisman-Vozari · Raymond Mongeau · Laurence Lanfumey · Aderbal S. Aguiar · Aderbal S. Aguiar · Aderbal S. Aguiar
Open-label, single arm, pilot study of intravenous laronidase following allogeneic transplantation for Hurler syndrome Ryuichi Mashima · Torayuki Okuyama · Torayuki Okuyama
Deoxysphingolipid precursors indicate abnormal sphingolipid metabolism in individuals with primary and secondary disturbances of serine availability Muriel Girard · Aurélia Poujois · Monique Fabre · Florence Lacaille · Dominique Debray · Marlène Rio · François Fenaille · Sophie Cholet · Coralie Ruel · Coralie Ruel · Elizabeth Caussé · Janick Selves · Laure Bridoux-Henno · Thierry Dupré · Sandrine Vuillaumier-Barrot · Nathalie Seta · Laurent Alric · Pascale de Lonlay · Arnaud Bruneel · Arnaud Bruneel
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis Marco Spada · Ralf Baron · Perry M. Elliott · Bruno Falissard · Max J. Hilz · Lorenzo Monserrat · Camilla Tøndel · Anna Tylki-Szymańska · Christoph Wanner · Dominique P. Germain · Dominique P. Germain
CCDC115-CDG: A new rare and misleading inherited cause of liver disease J. Lawrence Merritt · J. Lawrence Merritt · Linnea L. Brody · Gisele Pino · Piero Rinaldo · Piero Rinaldo
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts Fan Yi · Xinying Hong · Arun Babu Kumar · Chengli Zong · Geert-Jan Boons · C. Ronald Scott · František Tureček · Bruce H. Robinson · Michael H. Gelb · Michael H. Gelb
Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening Hira Peracha · Hira Peracha · Kazuki Sawamoto · Lauren W. Averill · Heidi H. Kecskemethy · Mary C. Theroux · Mary C. Theroux · Mihir M. Thacker · Kyoko Nagao · Kyoko Nagao · Kyoko Nagao · Christian Pizarro · William G. Mackenzie · Hironori Kobayashi · Seiji Yamaguchi · Yasuyuki Suzuki · Kenji E. Orii · Tadao Orii · Toshiyuki Fukao · Shunji Tomatsu · Shunji Tomatsu
Glucosylsphingosine concentration is the most reliable response-parameter for low-dose ERT in homozygous N370S Gaucher patients Ilyas Okur · Maureen Cleary · María José de Castro López · Paul Harmatz · Joy Lee · Shaun-Pei Lin · María L. Couce · Nicole Muschol · Heidi Peters · Martha Solano Villarreal · Adam J. Shaywitz · Heather Cahan · Anita Grover · Stephen M. Maricich · Andrew Melton · Lynn Smith · Fatih Süheyl Ezgü · Fatih Süheyl Ezgü
Prevalence of autoimmune disorders and cancer in a Gaucher type 1 population at a large metropolitan referral center for lysosomal disorders in New York City Prerna Rastogi · Myrl Holida · Christie P. Thomas · Christie P. Thomas
Fabry disease presentation in a heterozygote female patient Dau-Ming Niu · Ming-Jia Hsu · Fu-Pang Chang · Yung-Hsiu Lu · Sheng-Che Hung · Yu-Chen Wang · Jen-Fan Hang · An-Hang Yang · Han-Rei Lee · Shih-Hsien Sung · Yen-Feng Wang · Wen-Chung Yu · Ting-Rong Hsu · Po-Hsun Huang · Sheng-Kai Chang · Ivan Dzhagalov · Chia-Lin Hsu · Chia-Lin Hsu
Identification of lysosomal and extralysosomal globotriaosylceramide (GB3) accumulations in the endomyocardial biopsies before the occurrence of typical pathological changes of the patients with Fabry disease Monique Fontaine · Isabelle Kim · Anne-Frédérique Dessein · Karine Mention-Mulliez · Dries Dobbelaere · Claire Douillard · Guilhem Solé · Manuel Schiff · Roland Jaussaud · Caroline Espil-Taris · Audrey Boutron · Wim Wuyts · Cécile Acquaviva · Christine Vianey-Saban · D. Roland · Marie Joncquel-Chevalier Curt · Joseph Vamecq · Joseph Vamecq · Joseph Vamecq
Pharmacokinetics and tissue distribution of RVT-801, a recombinant human acid ceramidase, at efficacious doses in a murine model of Farber disease Lei Jiang · Pedro Berraondo · Lin Tung Guey · Ana Sampedro · Andrea Frassetto · Kerry E. Benenato · Mayur Kalariya · Staci Sabnis · Timothy Salerno · Ellalahewage Sathyajith Kumarasinghe · William Butcher · Christine M. Lukacs · Matías A. Avila · Antonio Fontanellas · Paolo Martini · Paolo Martini
Projected Retained Ability Score (PRAS): A new methodology applied to DAS-II GCA scores for the longitudinal assessment of cognitive abilities in paediatric and adolescent patients with Hunter syndrome Alícia Dorneles Dornelles · William O.T. Kisak · Guilherme I.P.S. Gertsenchtein · Ida V.D. Schwartz · Ida V.D. Schwartz
Enzyme replacement therapy for late-onset Pompe disease: A systematic review David G. Warnock · Martha R. Charney · Derralynn Hughes · Raphael Schiffmann · Sari Alon · Raul Chertkoff · Einat Brill-Almon · Einat Brill-Almon
Using PEDI-CAT to assess functional capabilities in CLN3 (Batten) disease Julia B. Hennermann · Marlene Seegräber · Yasmina Amraoui · Seyfullah Gökce · Jörg Reinke · Andrea Dieckmann · Martin Smitka · Skadi Beblo · Eugen Mengel · Eduard Paschke · Laila Arash-Kaps · Laila Arash-Kaps
N -acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease Stefano Schiaffino · Stefano Schiaffino
Is it time to redefine what it means to have type 3 Gaucher disease Behzad Najafian · Camilla Tøndel · Einar Svarstad · Michael Mauer · Michael Mauer
Application of iTRAQ shotgun proteomics for revealing metabolic changes related to Gaucher disease Jodi D. Smith · Tyler Harm · Dana N. LeVine · Scott A. Christopher · Shannon J. Hostetter · Elizabeth M. Snella · Gary S. Johnson · N. Matthew Ellinwood · N. Matthew Ellinwood
Podocyte structural parameters predict glomerular filtration rate (GFR) loss in male patients with classic Fabry disease Cynthia J. Tifft · Camille Wang · Jean M. Johnston · Katherine Alter · Edythe Wiggs · Beth Solomon · Colleen Wahl · Michele E. Nehrebecky · Rena Godfrey · Lea Latham · Catherine Groden · Eva H. Baker · Tanya J. Lehky · Camilo Toro · Camilo Toro
Novel lysosomal disease in a juvenile golden retriever David C. Kasper · Thomas P. Mechtler · Berthold Streubel · Berthold Streubel
Clinical outcomes and brain metabolites in patients with late onset Tay-Sachs and Sandhoff disease Sumit Bhattacharyya · Leo Feferman · Girish Sharma · Joanne K. Tobacman · Joanne K. Tobacman
Five year experience of diagnostic testing for lysosomal diseases in Germany, Austria and Switzerland Hiroyuki Sonoda · Hideto Morimoto · Eiji Yoden · Yuri Koshimura · Masafumi Kinoshita · Galina Golovina · Haruna Takagi · Ryuji Yamamoto · Kohtaro Minami · Katsuhiko Tachibana · Tohru Hirato · Kenichi Takahashi · Kenichi Takahashi
Increased GPNMB, phospho-ERK1/2, and MMP-9 in cystic fibrosis in association with reduced arylsulfatase B Abdullah S. Alshehri · Luke J. Haslett · Helen Waller-Evans · Emyr Lloyd-Evans · Emyr Lloyd-Evans
Blood-brain barrier-penetrating iduronate-2-sulfatase reduces brain glycosaminoglycans in mouse model of mucopolysaccharidosis type II Heather R. Adams · Erika F. Augustine · Erika F. Augustine
Simple fluorimetric test for lysosomal swelling as a means to identify, monitor and develop therapies for all lysosomal diseases Chelsee T. Sauni · Feng Wang · Shih-hsin Kan · Steven Q. Le · Betty Anderson · Jill Wood · Sean Ekins · Tsui-Fen Chou · Patricia Dickson · Patricia Dickson
Pilot enzyme replacement therapy with recombinant human glucosamine (N-acetyl)-6-sulfatase in mucopolysaccharidosis type IIID mouse model Kathleen Nicholls · Roberto Giugliani · Raphael Schiffmann · Derralynn Hughes · Vipul Jain · Fred Holdbrook · Nina Skuban · Jeffery P. Castelli · Jay Barth · Jay Barth
Presenting signs and symptoms of MPS: Results of an international physician survey Ankit K. Desai · Zoheb B. Kazi · Angelika Erwin · Bradley Troxler · David Kronn · Seymour Packman · Marta Sabbadini · Jean-Marc Nuoffer · James Weisfield-Adams · William B. Rizzo · Clarisa Maxit · Marianne Rohrbach · Diana Ballhausen · Katalin Scherer · Omar A. Abdul-Rahman · Pranoot Tanpaiboon · Sheela Nampoothiri · Neerja Gupta · Annette Feigenbaum · Dmitriy Niyazov · Sherry Langston · Alison McVie-Wylie · Crystal Sung · Alexandra M. Joseph · Susan Richards · Priya S. Kishnani · Priya S. Kishnani
Clinical variability of GM1 gangliosidosis Patricia Dickson · Steven T. Chen · Igor Nestrasil · Steven Q. Le · Shih-hsin Kan · Jackie K. Jens · Elizabeth M. Snella · N. Matthew Ellinwood · Miguel Guzman · Leonard E. White · Jonathan D. Cooper · Martin Egeland · Charles H. Vite · James M. Provenzale · James M. Provenzale
Renal outcomes with up to 9 years of migalastat in patients with Fabry disease: Results from an open-label extension study Jordi Díaz-Manera · Alicia Alonso-Jimenez · S. Figueroa-Bonaparte · L. Gonzalez-Quereda · Sonia Segovia · Jaume Llauger · Izaskun Belmonte · Irene Pedrosa · Ana Carrasco · Claudia Nuñez-Peralta · Isabel Illa · Eduard Gallardo · Eduard Gallardo
Neuroimaging and neuropathology reveal progressively abnormal white matter and cerebrospinal fluid volume in MPS I dogs David Kronn · Valerie Marrero Stein · Subhadra Siegel · Subhadra Siegel
Anti-rh-GAA antibodies does not influence late onset Pompe disease progression Brenden Chen · Silvere Pagant · Robert J. Desnick · Robert J. Desnick
Response to omalizumab in a patient with Pompe disease Su Han Lum · Andrew Will · Denise Bonney · Prashant Hiwarkar · Kay Poulton · Heather J. Church · Jean Mercer · Karen Tylee · James Edward Wraith · Simon Arnett Jones · Robert Wynn · Robert Wynn
Precision medicine for Fabry disease: Benign and like-benign missense mutations Caroline Hart · James E. Davison · Maureen Cleary · Maureen Cleary
A decade of low transplant-related mortality in children with inherited metabolic diseases Roberto Giugliani · Luciana Giugliani · Amauri Dalla Corte · Fabiano de Oliveira Poswar · Karina Carvalho Donis · Mathias Schmidt · Douglas Hunt · Ruben J. Boado · William M. Pardridge · William M. Pardridge
Therapeutic correction of central nervous system pathology by intravenously administered chemically modified sulfamidase in a mouse model of mucopolysaccharidosis type IIIA Jeong-A Lim · Baodong Sun · Rosa Puertollano · Nina Raben · Nina Raben
Improving the management of enzyme replacement therapy infusion reactions: increasing preparedness through multi disciplinary clinicalsimulation training Stuart M. Ellison · Shaun Wood · Ana Sergijenko · Myriam Armant · Lucas Chan · Farzin Farzaneh · Simon Arnett Jones · Rob Wynn · Bobby Gaspar · Alessandra Biffi · Brian Bigger · Brian Bigger
Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type I Jane Gillis · Barbara K. Burton · Michal Inbar-Feigenberg · Margaret Mackrell · Chanika Phornphutkul · David W. Stockton · Aneal Khan · Aneal Khan
Pre-clinical safety and efficacy evaluation of GMP lentiviral vector in preparation for a clinical trial of hematopoietic stem cell gene therapy in MPS IIIA C. Serratrice · Jérôme Stirnemann · Amina Berrahal · Monia Bengherbia · Nadia Belmatoug · Fabrice Camou · Marc Berger · Marc Berger
North American experience with laronidase enzyme replacement therapy for mucopolysaccharidosis type I in a home infusion setting John Mitchell · Lorne A. Clarke · Carolyn Ellaway · Helen Foster · Roberto Giugliani · Cyril Goizet · Sarah Goring · Sara M. Hawley · Elaina Jurecki · Zaeem Khan · Christina Lampe · Ken Martin · Suzanne McMullen · Fathima Mubarack · Joseph Muenzer · H. Serap Sivri · Fiona Stewart · Anna Tylki-Szymańska · Klane K. White · Frits A. Wijburg · Frits A. Wijburg
Untreated patients with type 1 Gaucher disease: Who are they? Preliminary results from the Gaucher non- treated study Su Han Lum · Weston P. Miller · Troy C. Lund · Paul J. Orchard · Simon Arnett Jones · Jaap-Jan Boelens · Robert Wynn · Robert Wynn
Enhanced pharmacokinetics profile of pegunigalsidase alfa (PRX-102) supports once-monthly 2mg/kg dosing for the treatment of Fabry disease Jackie Imrie · Mercè Pineda · Maria Jose Coll · Tarek Hiwot · Simon Arnett Jones · Bruno Bembi · Martin Hrbicek · Eugen Mengel · Ellen Crushell · Marc C. Patterson · Jim Green · Jim Green
Effects of psychosine-reducing agents in the twitcher murine model for Krabbe disease Molly Stapleton · Molly Stapleton · Nivethitha Arunkumar · Nivethitha Arunkumar · Francyne Kubaski · Robert W. Mason · Robert W. Mason · Orii Tadao · Shunji Tomatsu · Shunji Tomatsu
The International Niemann-Pick Disease Registry (INPDR) - A new model of patient-empowered data ownership and management Niamh Finnigan · Jane Roberts · Catherine Breen · Stewart Rust · Christian J. Hendriksz · Bill Newman · Jane Ashworth · Simon Arnett Jones · Simon Arnett Jones
Intravenous administration of CLN3 gene therapy for juvenile neuronal ceroid lipofuscinosis Shunji Tomatsu · Caitlin Doherty · Lauren W. Averill · Mary C. Theroux · Robert W. Mason · Robert W. Mason
Awareness of MPS I among cardiologists Stefanie Flunkert · Ewald Auer · Estibaliz Santiago Mugica · Victoria Schiffer · Martina Farcher · Vera Niederkofler · Roland Rabl · Maria Posch · Joerg Neddens · Birgit Hutter-Paier · Birgit Hutter-Paier
A comparison of three proposed methods of newborn screening for early infantile Krabbe disease Manuela Corti · Brian D. Cleaver · Nathalie Clément · Genscheng Wang · Janet M. Benson · Alice F. Tarantal · Roland W. Herzog · Barry J. Byrne · Barry J. Byrne
Pathological hallmarks of the Gaucher disease mouse model 4L/PS-NA Amy Barczykowski · Thomas J. Langan · Adeline Vanderver · Kabir Jalal · Randy L. Carter · Randy L. Carter
Enabling redosing of AAV by immune management in Pompe disease: Preclinical to clinical studies M. Judith Peterschmitt · S. Pablo Sardi · Lamya S. Shihabuddin · Dan Rudin · Jyoti Sharma · Roberto Araujo · Jian Li · Tanya Z. Fischer · Tanya Z. Fischer
Death rates in the United States due to leukodystrophies in the global leukodystrophy initiative registry and related lysosomal disorders Luciana Giugliani · Karina Carvalho Donis · Fabiano de Oliveira Poswar · Roberto Giugliani · Ruben J. Boado · Ruben J. Boado
Evaluation of glucosyl ceramide synthase (GCS) inhibition for GBA-associated Parkinson disease Igor Nestrasil · Alia Ahmed · Kyle Rudser · Chester B. Whitley · Jeanine Jarnes · Jeanine Jarnes
Somatic effects of AGT-181 in patients with mucopolysaccharidosis I enrolled in a phase I/II clinical trial in Brazil Raphael Schiffmann · Alena Svátková · Mary Wallace · Carol Nguyen · Mari Rodriguez-Rivera · Igor Nestrasil · Igor Nestrasil
Longitudinal study of brain volume changes in infantile and juvenile gangliosidoses Caren Swift · Raphael Schiffmann · Hadis Williams · Jay Barth · Nina Skuban · Jeffrey P. Castelli · Jeffrey P. Castelli
Blood and brain biomarkers of oxidative stress and inflammation in type 1 Gaucher disease: Effect of antioxidant therapy Harrison N. Jones · Kelly D. Crisp · Milisa Batten · Ashley Edds · Jill Marcus · Maragatha Kuchibhalta · Lisa D. Hobson-Webb · Priya S. Kishnani · Priya S. Kishnani
A 7-year quantitative neurological natural history in mucolipidosis type IV Matthew A. Summers · Matthew A. Summers · Emily Vasiljevski · Emily Vasiljevski · Kathy Mikulec · Lauren Peacock · David G. Little · David G. Little · Aaron Schindeler · Aaron Schindeler · Aaron Schindeler
Ten years of migalastat treatment in a patient with Fabry disease: A case report Pilar Giraldo · Laura López de Frutos · Jorge J. Cebolla · Pilar Irún · Marcio Andrade-Campos · Ralf Köehler · Ralf Köehler
Developmental dosing with a MEK inhibitor (PD0325901) rescues myopathic features of the muscle-specific but not limb-specific Nf1 knockout mouse Scott Kerns · J. Daum · Megan E. Bosch · Rachel W. Fallet · Jessica Odvody · Kari Henson · Kaye Spratt · Tammy Kielian · Tammy Kielian
Defective function of KCa3.1 channels in lysosomal disorders Christian J. Hendriksz · Christian J. Hendriksz · Saikat Santra · Simon A. Jones · Tarekegn Geberhiwot · Lynne Jesaitis · Brian Long · Yulan Qi · Sara M. Hawley · Celeste Decker · Celeste Decker
Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment Samantha A. Marcellus · John A. Bernat · Myrl Holida · Myrl Holida
Clinical presentation and diagnosis of mucopolysaccharidoses Pilar Giraldo · Alberto Almeida · Laura López de Frutos · Blanca Medrano-Engay · Pilar Ribate · Marcio Andrade-Campos · Marcio Andrade-Campos
Natural history of Morquio syndrome type A patient with tracheal obstruction from birth to death Rodrigo Tzovenos Starosta · Carlos Thadeu Schmidt Cerski · Ida Vanessa Doederlein Schwartz · Ida Vanessa Doederlein Schwartz
Late development of oculomotor apraxia in a male adolescent with Gaucher disease Ravi Thadhani · Katherine Brock · Sahir Kalim · Geoffrey A. Block · Dorothy Sullivan · Elizabeth Ankers · Elizabeth Ankers
Iron quantification in liver biopsies of patients with Gaucher disease: New method and results Juan Mucci · Constanza Bondar · Andrea Crivaro · Maximiliano Ormazabal · Beatriz Oliveri · Diana Gonzales · Paula Rozenfeld · Paula Rozenfeld
Kidney information network for disease research and education (KINDRED) abstract: Screening for Fabry disease among United States hemodialysis patients Rodrigo Tzovenos Starosta · Alícia Dorneles Dornelles · Filippo Pinto e Vairo · Ida V.D. Schwartz · Ida V.D. Schwartz
In vitro osteoclast differentiation correlates with bonemineral density in Gaucher disease patients Samuel S. Chu · Chloe L. Christensen · Francis Y.M. Choy · Francis Y.M. Choy
Liver disease in a Gaucher disease cohort from southern Brazil: A cross-sectional study Dawn Peck · Gessi Bentz Pino · April Studinksi · Amy L. White · Dimitar Gavrilov · Devin Oglesbee · Kimiyo Raymond · Piero Rinaldo · Silvia Tortorelli · Dietrich Matern · Dietrich Matern
The impact of GC content on CRISPR/Cas9 gene editing: implications for mucopolysaccharidosis type IIIB Roberto Giugliani · Christine I. Dali · Caroline Sevin · Ingeborg Krägeloh-Mann · Christopher Troedson · Norio Sakai · James Wu · Margaret Wasilewski · Margaret Wasilewski
Laboratory follow up after abnormal newborn screening for lysosomal disorders James E. Davison · Maria Toledano · Jacob Simmonds · Maureen Cleary · Maureen Cleary
Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy: A post hoc analysis of responders and non-responders Édina Poletto · Gabriela Pasqualim · Roberto Giugliani · Ursula da Silveira Matte · Guilherme Baldo · Guilherme Baldo
Dilated cardiomyopathy at presentation of mucopolysaccharidosis type IH (Hurler syndrome): Clinical characteristics and management outcome Christian J. Hendriksz · Saikat Santra · Simon Arnett Jones · Tarekegn Geberhiwot · Lynne Jesaitis · Brian Long · Yulan Qi · Sara M. Hawley · Celeste Decker · Celeste Decker
Geographic distribution and possible origins of most frequent mutations observed in mucopolysaccharidosis type I patients Igor Nestrasil · Carol Nguyen · Manuela Vaneckova · Andrea Burgetova · Lenka Murgasova · Jiri Zeman · Danijela Petković Ramadza · Ivo Barić · Zsuzsanna Almássy · Katarina Jurickova · V. Bzduch · Anna Tylki-Szymańska · Martin Magner · Martin Magner
Safety, efficacy, and immunogenicity of elosulfase alfa in patients with Morquio syndrome type A participating in 2 sequential open-label studies (MOR-002/MOR-100), representing 5 years of treatment David Arkadir · Tama Dinur · Shoshana Revel-Vilk · Michal Becker Cohen · Claudia Cozma · Marina Hovakimyan · Sabrina Eichler · Arndt Rolfs · Ari Zimran · Ari Zimran
Hepatocellular dysfunction and gene expression changes in the acid ceramidase deficient mouse Randy L. Carter · Kabir Jalal · Joseph J. Orsini · Lawrence Wrabetz · Amy L. Barcyzkowski · Maria L. Escolar · Chad K. Biski · Thomas J. Langan · Thomas J. Langan
A proposed staging system for CLN3 disease (juvenile Batten disease) María Verónica Muñoz-Rojas · Nicolas Pangaud · Vassili Valayannopoulos · Vassili Valayannopoulos
A thorough autonomy assessment of individuals with Hurler syndrome who survive into adulthood: A feasibility study using the Independent Living Study (ILS) Salvatore Molino · Fabian P.S. Yu · Jakub Sikora · Shauna Rasmussen · Aron M. Geurts · Patricia V. Turner · Jeffrey A. Medin · Jeffrey A. Medin
Long-term adverse event profile from four completed trials of oral eliglustat in adults with Gaucher disease type 1 Jonathan W. Mink · Justin D. Williams · Erika F. Augustine · Erika F. Augustine
Significant variability in phenotype in an unusual family with attenuated MPS II (Hunter syndrome) Christina R. Mikulka · Mark S. Sands · Mark S. Sands
Pharmacogenetic study in type 1 Gaucher disease patients Patricia L. Hall · Christina Lam · Christina Lam · John J. Alexander · Ghazia Asif · Gerard T. Berry · Carlos Ferreira · Hudson H. Freeze · William A. Gahl · Kim K. Nickander · Jon D. Sharer · Caroline M. Watson · Lynne A. Wolfe · Kimiyo Raymond · Kimiyo Raymond
Eliminating cross-correction allows for cell-specific expression of the lysosomal enzyme galactocerebrosidase in the twitcher mouse Volkan Seyrantepe · Nurselin Ates · Melike Can · Tugce Sengul · Secil Akyildiz Demir · Secil Akyildiz Demir
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency Simon Arnett Jones · Barbara K. Burton · Jaco Botha · David Whiteman · David Whiteman
Abnormal GM2 accumulation alters the function of the autophagic pathway in early-onset Tay-Sachs disease mouse model Behzad Najafian · Fu-Pang Chang · Alexey Sokolovskiy · Michael Mauer · Michael Mauer
Profile of natural history in 104 patients with mucopolysaccharidosis type II: Insights from the Hunter Outcome Survey (HOS) Jillian R. Brown · Wenyong Tong · Chrissa A. Dwyer · Bryan E. Thacker · Charles A. Glass · Kristina M. Hamill · Kelley W. Moremen · Stéphane Sarrazin · Philip L.S.M. Gordts · Gentry N. Patrick · Lara E. Dozier · Yitzhak Tor · Jonathan D. Cooper · Patricia Dickson · Jeffrey D. Esko · Jeffrey D. Esko
Parietal epithelial cells (PEC) in male patients with Fabry disease neuropathy Graciela Arguello Florencio · Graciela Arguello Florencio
Guanidinylated neomycin conjugation enhances intranasal enzyme replacement in the brain Max J. Hilz · Eloisa Arbustini · Lorenzo Dagna · Antonio Gasbarrini · Cyril Goizet · Didier Lacombe · Rocco Liguori · Raffaele Manna · Juan Politei · Marco Spada · Alessandro P. Burlina · Alessandro P. Burlina
Genistein activates TFEB and induces lysosomal clearance in Niemann-Pick disease type C models Patrício Aguiar · Olga Azevedo · Rui Pinto · Jacira Marino · Carlos Cardoso · Nuno Sousa · Damião Cunha · Derralynn Hughes · José Luís Ducla Soares · José Luís Ducla Soares
Do we understand the pathophysiology of gastrointestinal symptoms in patients with Fabry disease Magdalena Harrington · Diane Whalley · James Twiss · Rebecca Rushton · Susan St Martin · Lynn Huynh · Hongbo Yang · Hongbo Yang
Collagen type I synthesis biomarkers predict the progression of Fabry disease cardiomyopathy Neslihan Önenli Mungan · Fatma Derya Bulut · Berna Şeker-Yılmaz · Sebile Kılavuz · Deniz Kör · Filiz Koç · Emel Gürkan · Saime Paydas · Birol Guvenc · Bahriye Atmış · Ali Deniz · Ali Deniz
Metachromatic leukodystrophy and caregiver perspectives: Understanding the natural history of the disease from interviews with caregivers Sharon Byers · Srimayee Vaidyanathan · Ainslie L.K. Derrick-Roberts · Ainslie L.K. Derrick-Roberts
Cukurova University experience of lysosomal diseases in adulthood: Report of 57 patients Claudia Cozma · Marius Iurascu · Gabriela Oprea · Jan Lukas · Susanne Zielke · Arndt Rolfs · Arndt Rolfs
Biochemical and genetic characteristics of the largest worldwide Fabry cohort reported to present Francisco J. del Castillo · Gloria Muñoz · David García-Seisdedos · Antonio Sánchez-Herranz · Marta Morado · Ana Vallés · Miguel Piris · Fernando Martín-Moro · Alejandro Sanz-Rupérez · Javier López-Jiménez · Jesús Villarrubia · Jesús Villarrubia
A variant of GM1 gangliosidosis in a sheep model Yin-Hsiu Chien · Ni-Chung Lee · Wuh-Liang Hwu · Pin-Wen Chen · An-Ju Lee · An-Ju Lee
Fast genetic diagnosis of lysosomal disorders by means of a novel NGS-based resequencing gene panel Margarita Ivanova · Erk Changsila · Ozlem Goker-Alpan · Ozlem Goker-Alpan
Newborn screening for Gaucher disease and MPS I disease: A single center experience in Taiwan Rebecca Ganetzky · Rebecca Ganetzky · Marni J. Falk · Marni J. Falk · Marni J. Falk
Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines Roberto Sandobal Pacheco · Diana Espinosa Villanueva · Adriana Alcnatara Salinas · Jorge A. Romero Ramirez · Jose Antonio Vasquez Galeana · Ramon A. Perez Martinez · Pablo Radillo Diaz · Liliana Marcos Cabrera · Liliana Marcos Cabrera
The effect of treatment on urinary glycosylated lysine a marker of extracellular matrix integrity and lysosome function in mucopolysaccharidosis types I, II, IV and VI patients Eugeni V. Entchev · Ingrid Jantzen · Xavier Gawronski · Laurence Feraille · Jean-Michel Luccarini · Jean-Louis Abitbol · Jean-Louis Junien · Pierre Broqua · Mireille Tallandier · Mireille Tallandier
8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease Joel Charrow · Cristina Fraga · Xuefan Gu · Hiroyuki Ida · Nicola Longo · Elena Lukina · Alexandre Nonino · Sebastiaan J.M. Gaemers · Marie-Helene Jouvin · Jing Li · Yaoshi Wu · Yong Xue · M. Judith Peterschmitt · M. Judith Peterschmitt
Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapy Troy C. Lund · Weston P. Miller · Gerry V. Raymond · Jakub Tolar · Dawn A. Lowe · Gengyun Lee · Paul J. Orchard · Paul J. Orchard
Long-term stability in randomized and non-randomized patients in the phase 3 randomized, double-blind EDGE trial of once- versus twice-daily dosing of eliglustat in patients with Gaucher disease type 1 Takahiro Tsukimura · Masashi Shigenaga · Seiji Saito · Tadayasu Togawa · Hitoshi Sakuraba · Hitoshi Sakuraba
Post-transplant iduronidase attenuates skeletal disease in MPS IH Christiane Auray-Blais · Pamela Lavoie · Pamela Lavoie
Comparison of GLA variants of unknown significance and the specific mutations causing moderate Fabry disease M. Judith Peterschmitt · Audrey W. Hou · Lisa H. Underhill · Yaoshi Wu · Sebastiaan J.M. Gaemers · Sebastiaan J.M. Gaemers
Mass or high-risk screening of mucopolysaccharidoses using urine samples collected on filter paper Sarah Lewis · Brenda Diethelm-Okita · David Erickson · Chester B. Whitley · Chester B. Whitley
Efficacy and safety of intrathecal idursulfase in pediatric patients with mucopolysaccharidosis type II and early cognitive impairment: Design and methods of a controlled, randomized, phase II/III multicenter study Mitch Bailey · Litsa Karageorgos · Rosella Tomanin · Moeenaldeen Al-Sayed · Emanuela Izzo · Nicole Miller · Hitoshi Sakuraba · Alessandra Zanetti · John J. Hopwood · John J. Hopwood
Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis Giovanna Menduti · Elisa Biamino · Roberta Vittorini · Serena Vesco · Maria Paola Puccinelli · Francesco Porta · Concetta Capo · Sara Leo · Bianca Maria Ciminelli · Federico Iacovelli · Marco Spada · Mattia Falconi · Patrizia Malaspina · Luisa Rossi · Luisa Rossi
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: A review of published classified variants in the ARSB gene Sarah P. Young · Haoyue Zhang · Jian Dai · Patricia McCaw · James Beasley · Denise Peterson · Ashlee R. Stiles · Marie McDonald · Dwight D. Koeberl · Deeksha Bali · Deeksha Bali
Lysosomal glucocerebrosidase inhibition is associated with perturbed dopamine turnover: a mechanistic insight into the link between Gaucher and Parkinson disease Arthavan Selvanathan · Arthavan Selvanathan · Carolyn Ellaway · Carolyn Ellaway · Callum Wilson · Penny Owens · Peter J. Shaw · Peter J. Shaw · Kaustuv Bhattacharya · Kaustuv Bhattacharya · Kaustuv Bhattacharya
The intra-monocyte pharmacokinetics of imiglucerase suggests a possible personalization of enzyme replacement therapy in patients with GD1 Derek Kelaita · Eric Ka-Wai Hui · Jeff Zhiqiang Lu · Huilan Lin · Ruben J. Boado · William M. Pardridge · William M. Pardridge
Long-term liver disease in methylmalonic and propionic acidemias Amel Karaa · Lauren Zeitels · Virginia Clarke · Virginia Clarke
Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome Marc Berger · Juliette Berger · Marie Vigan · Bruno Pereira · Roseline Froissart · Nadia Belmatoug · Florence Dalbies · Agathe Masseau · Christian Rose · C. Serratrice · Yves-Maris Pers · Ivan Bertschanski · Monia Bengherbia · Céline Bourgne · Alexandre Janel · Catherine Caillaud · Magali Pettazzoni · Amina Berrahal · Jérôme Stirnemann · Jérôme Stirnemann
New insights in efficacy of different dosages of enzyme replacement therapy due to treatment switch in Fabry disease Apolline Imbard · Nuria Garcia Segarra · M. Tardieu · Pierre Broué · Juliette Bouchereau · Samia Pichard · Hélène Ogier de Baulny · Abdelhamid Slama · Charlotte Mussini · Guy Touati · Marie Danjoux · Pauline Gaignard · Hannes Vogel · F. Labarthe · Manuel Schiff · Jean-François Benoist · Jean-François Benoist
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series V.Th. Ramaekers · Karin Segers · Jeffrey M. Sequeira · Michel Koenig · L. Van Maldergem · Vincent Bours · Uwe Kornak · Edward V. Quadros · Edward V. Quadros
Sustained efficacy and safety of vestronidase alfa (rhGUS) enzyme replacement therapy in patients with MPS VII Malte Lenders · Johannes Krämer · Sima Canaan-Kühl · Peter Nordbeck · Nurcan Üçeyler · Daniela Blaschke · Thomas Duning · Stefanie Reiermann · Jörg Stypmann · Stefan-Martin Brand · Timo Gottschling · Stefan Störk · Christoph Wanner · Claudia Sommer · Eva Brand · Frank Weidemann · Frank Weidemann
Characterization of drug-neutralizing antibodies in patients with Fabry disease during infusion with enzyme replacement therapy Raymond Y. Wang · José Francisco da Silva Franco · Paul Harmatz · Jaime López-Valdez · Esmeralda Martins · V. Reid Sutton · Chester B. Whitley · Amanda Chanda · Wenjie Song · Qais Abu Ali · Christine Haller · Christine Haller
Platform technology for treatment of the brain in lysosomal disorders Carla E. M. Hollak · Maarten Arends · Christoph Wanner · Sandra Sirrs · Atul Mehta · Perry M. Elliott · Daniel Oder · Oliver Watkinson · Daniel G. Bichet · Aneal Khan · Mark Iwanochko · Frédéric M. Vaz · André B.P. van Kuilenburg · Michael West · Derralynn Hughes · Marieke Biegstraaten · Marieke Biegstraaten
Importance of lyso-GL-3 (lyso-Gb3) for primary diagnostics of Fabry disease: two-year experience in a daily routine laboratory Simon Heales · Derek Burke · Simon Eaton · Carmen De La Fuente Barrigon · Carmen De La Fuente Barrigon
Novel blood-brain barrier delivery system to treat CNS in MPS II: First clinical trial of anti-transferrin receptor antibody fused enzyme therapy Malte Lenders · Boris Schmitz · Stefan-Martin Brand · Dirk Foell · Eva Brand · Eva Brand
New interaction between galectin-3 and cystinosin reveals a role of inflammation in kidney pathogenesis in cystinosis David C. Kasper · Thomas P. Mechtler · Berthold Streubel · Zoltan Lukacs · Zoltan Lukacs
Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT Torayuki Okuyama · Norio Sakai · Tatsuyoshi Yamamoto · Mariko Yamaoka · Teiji Tomio · Teiji Tomio
Lingual pathophysiology in late-onset Pompe disease Tatiana Lobry · Roy Miller · Nathalie Nevo · Celine J. Rocca · Marie-Claire Gubler · Cheung W. Wilson · Robert H. Mak · Tristan Montier · Corinne Antignac · Stephanie Cherqui · Stephanie Cherqui
Multiplexed testing for Gaucher disease, Niemann Pick disease types A and B and lysosomal acid lipase deficiency Dwight D. Koeberl · Laura E. Case · Edward C. Smith · Yanzhen Li · Crista Walters · Christoph P. Hornik · Beth L. Thurberg · Deeksha Bali · Nenad Bursac · Priya S. Kishnani · Priya S. Kishnani
Factors influencing patient preferences for oral versus intravenous (IV) enzyme replacement medication Chia-Feng Yang · Chu Tzu Hung · Hsuan-Chieh Liao · Ling-Yi Huang · Chuan-Chi Chiang · Hui-Chen Ho · Chih-Jou Lai · Tsui-Feng Yang · Ting-Rong Hsu · Wen-Jue Soong · Dau-Ming Niu · Dau-Ming Niu
Increased utility of dried blood spots in clinical diagnostic testing Zoltan Lukacs · Jonathan Rehnberg · Cristiaan Wessels · Cristiaan Wessels
Intrathecal laronidase administration and hematopoietic stem cell transplantation in an 11 months old infant with Hurler syndrome Damara Ortiz · Nadene Henderson · Roxanne Acquaro · Taraka R. Donti · Sara Cathey · Laura Pollard · Tim Wood · Pengfei Liu · Christine M. Eng · Christine M. Eng
Management goals and normalization concept for type 1 Gaucher disease: Results from a survey of expert physicians Angela Schulz · Nicola Specchio · Paul Gissen · Emily de los Reyes · Heather Cahan · Peter Slasor · Temitayo Ajayi · David B. Jacoby · David B. Jacoby
Genetic and enzymatic studies in a cluster of mucopolysaccharidosis type I patients in northwest Colombia Katharina Stumpfe · Sebastian Ulrich · Anja Köhn · Ingo Müller · Paul J. Orchard · Nicole Muschol · Nicole Muschol
Intracerebrovascular enzyme replacement therapy for CLN2 disease: A collaborative, multi-disciplinary approach Dawn Laney · Morgan F. Simmons · Allison Foley · Elizabeth D. Smith · Eric W. Hall · Anne K. Clark · Dawn Peck · Andrea M. Atherton · Tomi L. Toler · Linda Manwaring · Dorothy K. Grange · Christine F. Kidwell · Bruce A. Heese · Myrl Holida · Christiane Auray-Blais · Christiane Auray-Blais
Effects of immunosuppressants to two Japanese transplanted patients with Fabry disease Fernando Suarez-Obando · Ernesto Panesso-Suescun · John Gamboa-Rendón · Alfredo Uribe-Ardila · Alfredo Uribe-Ardila
CRISPR-mediated genome editing to treat MPS I mice with AAV vectors Naomi Pires-Barracosa · Nina Movsesyan · Nicole Truong · Joffre Olaya · Susan See · Kathleen Adlard · Winifred Stockton · Raymond Y. Wang · Raymond Y. Wang
Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: Two year results from an ongoing multicenter extension study Kaoru Eto · Takashi Miyajima · Mohammad Arif Hossain · Hiroko Yanagisawa · Keiko Akiyama · Chen Wu · Yoshikatsu Eto · Satoru Nagata · Satoru Nagata
The pros and cons of manipulating different pathways to address defective autophagy in Pompe disease Li Ou · Michael J. Przybilla · Chester B. Whitley · Chester B. Whitley
Tubular dysfunction biomarkers in Fabry disease: better than albuminuria to identify patients at risk of nephropathy progression Mohammad Arif Hossain · Chen Wu · Takashi Miyajima · Hiroko Yanagisawa · Keiko Akiyama · Rina Itagaki · Takeo Iwamoto · Yoshikatsu Eto · Yoshikatsu Eto
Interest of the pharmacological chaperone migalastat in the treatment of Fabry disease Paul Harmatz · Joseph Muenzer · Barbara K. Burton · Can Ficicioglu · Heather Lau · Nancy Leslie · Edward Conner · Cheryl Wong Po Foo · Sagar A. Vaidya · Thomas Wechsler · Chester B. Whitley · Chester B. Whitley
Liver-based expression of the human alpha-galactosidase A gene in a murine Fabry model results in continuous therapeutic levels of enzyme activity and effective substrate reduction Silvere Pagant · Marshall W. Huston · Makiko Yasuda · Susan St Martin · Scott Sproul · Russell DeKelver · Michael C. Holmes · Thomas Wechsler · Robert J. Desnick · Robert J. Desnick
Methylation study of CpG islands in GLA gene: best clinical phenotype predictor for heterozygous Fabry female Emanuela Izzo · Eva Barroso · Mitch Bailey · Stefan Griesbach · Holger Lerche · Lucy Jenkins · Eric Le Guern · Davide Mei · Svetlana Mikhaylova · Filippo M. Santorelli · Nicole Miller · Nicole Miller
ACE phenotyping in Gaucher disease Hong Li · Heather M. Byers · Alicia Diaz-Kuan · Miriam B. Vos · Patricia L. Hall · Silvia Tortorelli · Rani H. Singh · Matthew B. Wallenstein · Meredith Allain · David Dimmock · Ryan M. Farrell · Shawn E. McCandless · Michael J. Gambello · Michael J. Gambello
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study Barbara K. Burton · Christina Lampe · Florian B. Lagler · Jaco Botha · David Whiteman · David Whiteman
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas Marie Joncquel-Chevalier Curt · Marie-Adélaïde Bout · Monique Fontaine · Isabelle Kim · Guillemette Huet · Soumeya Bekri · Gilles Morin · Stéphanie Moortgat · Alexandre Moerman · Jean-Marie Cuisset · David Cheillan · Joseph Vamecq · Joseph Vamecq
Efficacy and safety of JR-051, a biosimilar of agalsidase beta, in patients with Fabry disease; results of a multicenter, open-label phase 3 study in Japan Christine Lavery · Simon Arnett Jones · Derralynn Hughes · Elaine Murphy · Ana Jovanovic · Christian J. Hendriksz · Maureen Cleary · Tarekegn Geberhiwot · Suresh Vijay · Suresh Vijay
A prospective, multicenter pilot study of Fabry disease clinical and biochemical findings in young pediatric patients: The MOPPet baseline data Su Xu · Adriane Schilling · Nestor Gomez · Michelle Frascella · Anandina Garcia · Rick L. Hamler · Daniel Ellsworth · Rebecca Soska · Anju Nair · Maria Cecilia Della Valle · Jessie Feng · Hayley Manger · Kenneth J. Valenzano · Hung Do · Russell Gotschall · Richie Khanna · Richie Khanna
A next-generation Fabry enzyme replacement therapy: A proprietary human α-galactosidase A co-formulated with a pharmacological chaperone, AT1001, shows greater substrate reduction than standard of care in Fabry mice Juan Politei · Ricardo Heguilen · Gustavo Cabrera · Amelia Bernasconi · Consuelo Durand · Frabasil Joaquin · Andrea Schenone · Andrea Schenone
Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders Jaya Punetha · Loren Mackay-Loder · Tamar Harel · Zeynep Coban-Akdemir · Shalini N. Jhangiani · Richard A. Gibbs · Ian Lee · Deborah Terespolsky · James R. Lupski · Jennifer E. Posey · Jennifer E. Posey
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism Tatiana Yuzyuk · Tatiana Yuzyuk · Bijina Balakrishnan · Elizabeth L. Schwarz · Irene De Biase · Irene De Biase · Judith A. Hobert · Judith A. Hobert · Nicola Longo · Nicola Longo · Rong Mao · Rong Mao · Kent Lai · Marzia Pasquali · Marzia Pasquali · Marzia Pasquali
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria Xuntian Jiang · Rohini Sidhu · Joseph J. Orsini · Nicole Y. Farhat · Forbes D. Porter · Elizabeth Berry-Kravis · Jean E. Schaffer · Daniel S. Ory · Daniel S. Ory
Central nervous involvement is common in PGM1-CDG Natrujee Wiwattanadittakul · Natrujee Wiwattanadittakul · Morgan Prust · William Davis Gaillard · An N. Massaro · Gilbert Vezina · Tammy N. Tsuchida · Andrea Gropman · Andrea Gropman
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant Roberto T. Zori · Janet A. Thomas · Natasha Shur · William B. Rizzo · Celeste Decker · Orli Rosen · Mingjin Li · Becky Schweighardt · Kevin Larimore · Nicola Longo · Nicola Longo
Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease Mrudu Herbert · Laura E. Case · Mugdha Rairikar · Heidi Cope · Lauren Bailey · Stephanie Austin · Priya S. Kishnani · Priya S. Kishnani
One-step synthesis of carbon-13-labeled globotriaosylsphingosine (lyso-Gb3), an internal standard for biomarker analysis of Fabry disease Fabio Nascimbeni · Elena Cassinerio · Annalisa Dalla Salda · Irene Motta · Serena Bursi · Salvatore Donatiello · Vincenzo Spina · Maria Domenica Cappellini · Francesca Carubbi · Francesca Carubbi
Effect of genotype on galactose-1-phosphate in classic galactosemia patients A. Serrano Russi · S. Donoghue · Avihu Boneh · Avihu Boneh · Renzo Manara · A.B. Burlina · A.P. Burlina · A.P. Burlina
Safety issues associated with dietary management in patients with hepatic glycogen storage disease Brian Bigger · David J. Begley · Daniela Virgintino · Alexey V. Pshezhetsky · Alexey V. Pshezhetsky
Non-clinical evaluation of JR-051 as a biosimilar to agalsidase beta for the treatment of Fabry disease Xinying Hong · Michael H. Gelb · Michael H. Gelb
Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy Thomas A.H. Steunenberg · Fabian Peeks · Irene J. Hoogeveen · John J. Mitchell · Helen Mundy · Foekje de Boer · Charlotte M.A. Lubout · Carolina Fischinger Moura de Souza · David A. Weinstein · Terry G. J. Derks · Terry G. J. Derks
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Hideto Morimoto · Yae Ito · Eiji Yoden · Masato Horie · Noboru Tanaka · Yoshikazu Komurasaki · Ryuji Yamamoto · Kazutoshi Mihara · Kohtaro Minami · Tohru Hirato · Tohru Hirato
Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS Tomoyuki Akiyama · Takuo Kubota · Keiichi Ozono · Toshimi Michigami · Daisuke Kobayashi · Shinji Takeyari · Yuichiro Sugiyama · Masahiro Noda · Daisuke Harada · Noriyuki Namba · Atsushi Suzuki · Maiko Utoyama · Sachiko Kitanaka · Mitsugu Uematsu · Yusuke Mitani · Kunihiro Matsunami · Shigeru Takishima · Erika Ogawa · Katsuhiro Kobayashi · Katsuhiro Kobayashi
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control Mohammed Almannai · Julia Wang · Hongzheng Dai · Ayman W. El-Hattab · Eissa Faqeih · Mohammed A.M. Saleh · Ali Al Asmari · Ali H. Alwadei · Yaser I. Aljadhai · Amal Alhashem · Brahim Tabarki · Dorothy K. Grange · Ruba Benini · Abdulaziz Alsaman · Adel Mahmoud · Panagiotis Katsonis · Olivier Lichtarge · Lee-Jun C. Wong · Lee-Jun C. Wong
Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots Steven F. Dobrowolski · Irina L. Tourkova · Lisa J. Robinson · Cassandra Secunda · Kayla Spridik · Harry C. Blair · Harry C. Blair
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation Scott N. Ashley · Jayme M.L. Nordin · Elizabeth L. Buza · Jenny A. Greig · James M. Wilson · James M. Wilson
A case of Schindler disease in the setting of familial cardiomyopathy Kyoko Nagao · Kyoko Nagao · Kyoko Nagao · Thierry Morlet · Thierry Morlet · Thierry Morlet · Elizabeth Haley · Jennifer Padilla · Julianne Nemith · Robert W. Mason · Shunji Tomatsu · Shunji Tomatsu · Shunji Tomatsu
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP) Ana Rivera-Barahona · Rosa Navarrete · Raquel García-Rodríguez · Eva Richard · Magdalena Ugarte · Celia Pérez-Cerdá · Belén Pérez · Alejandra Gámez · Lourdes R. Desviat · Lourdes R. Desviat
Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria Yonina Loskove · Makiko Yasuda · Brenden Chen · Irina Nazarenko · Neal Cody · Robert J. Desnick · Robert J. Desnick
Plasma-derived cell-free mitochondrial DNA: A novel non-invasive methodology to identify mitochondrial DNA haplogroups in humans Frits A. Wijburg · Chester B. Whitley · Joseph Muenzer · Serena Gasperini · Mireia del Toro · Nicole Muschol · Maureen Cleary · Caroline Sevin · Elsa Shapiro · Parul Bhargava · Douglas S. Kerr · David Alexanderian · David Alexanderian
Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases Christopher Newell · Stacey Hume · Steven C. Greenway · Lynn Podemski · Jane Shearer · Aneal Khan · Aneal Khan
Next-generation antibody-guided enzyme replacement therapy in Pompe disease mice Virginia E. Kimonis · Jousef Alandy-Dy · Marie Wencel · Katherine W. Hall · Alice Chen · Deeksha Bali · Namita Goyal · Tahseen Mozaffar · Tahseen Mozaffar
A newly generated neuronal cell model of CLN7 disease reveals aberrant lysosome motility and impaired cell survival Yohta Shimada · Taichi Wakabayashi · Kazumasa Akiyama · Kazumasa Akiyama · Hiroo Hoshina · Takashi Higuchi · Hiroshi Kobayashi · Yoshikatsu Eto · Hiroyuki Ida · Toya Ohashi · Toya Ohashi
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations Ayman W. El-Hattab · Jehan Suleiman · Mohammed Almannai · Fernando Scaglia · Fernando Scaglia
Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease Lisa von Kleist · Khandsuren Ariunbat · Ingke Braren · Tobias Stauber · Stephan Storch · Tatyana Danyukova · Tatyana Danyukova
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders Li Ou · Michael J. Przybilla · Chester B. Whitley · Chester B. Whitley
Malignant brain tumors in patients with glutaric aciduria type I Yedidyah Weiss · Manisha Balwani · Brenden Chen · Makiko Yasuda · Irina Nazarenko · Robert J. Desnick · Robert J. Desnick
RNA-Seq analysis in an avian model of maternal phenylketonuria Francesca Granata · Manuel Méndez · Valentina Brancaleoni · Francisco J. Castelbon · Giovanna Graziadei · Paolo Ventura · Elena Di Pierro · Elena Di Pierro
Aicardi goutières syndrome is associated with pulmonary hypertension Susan A. Berry · Jerry Vockley · Alexander A. Vinks · Min Dong · George A. Diaz · Shawn E. McCandless · Wendy Smith · Cary O. Harding · Roberto T. Zori · Can Ficicioglu · Uta Lichter-Konecki · Renee Perdok · Beth Robinson · Robert J. Holt · Nicola Longo · Nicola Longo
Development and clinical consequences of white matter lesions in Fabry disease: a systematic review Jamie N. Watson · Nikki J. Seagraves · Nikki J. Seagraves
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria Laura A. Adang · David B. Frank · Ahmed Gilani · Asako Takanohashi · Nicole Ulrick · Abigail Collins · Zachary Cross · Csaba Galambos · Guy Helman · Usama Kanaan · Stephanie Keller · Dawn M. Simon · Omar Sherbini · Brian D. Hanna · Adeline Vanderver · Adeline Vanderver
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations Simon Körver · Magda Vergouwe · Carla E. M. Hollak · Ivo N. van Schaik · Mirjam Langeveld · Mirjam Langeveld
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria Barbara K. Burton · Kyle Bradford Jones · Stephen D. Cederbaum · Fran Rohr · Susan E. Waisbren · Debra E. Irwin · Gilwan Kim · Joshua Lilienstein · Ignacio Alvarez · Elaina Jurecki · Harvey L. Levy · Harvey L. Levy
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center Noboru Tanaka · Sachiho Kida · Masafumi Kinoshita · Hideto Morimoto · Tadao Shibasaki · Katsuhiko Tachibana · Ryuji Yamamoto · Ryuji Yamamoto
Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone Thorsten Hornemann · Irina Alecu · Niels Hagenbuch · Assem Zhakupova · Alessio Cremonesi · Matthias Gautschi · Hans H. Jung · Fabian Meienberg · Stefan Bilz · Emanuel Christ · Matthias R. Baumgartner · Matthias R. Baumgartner · Michel Hochuli · Michel Hochuli
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre Meryl Waldman · Joan C. Han · Joan C. Han · Daniela P Reyes-Capo · Joy Bryant · Kathryn A. Carson · Kathryn A. Carson · Baris Turkbey · Peter L. Choyke · Juergen K Naggert · William A. Gahl · Jan D. Marshall · Meral Gunay-Aygun · Meral Gunay-Aygun · Meral Gunay-Aygun
Evaluation of a novel, non-invasive iPSC based cell therapy for neuronopathic Gaucher disease Gee-Hee Kim · Su-Nam Lee · Ki-Dong Yoo · Ki-Dong Yoo
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data Guillermo Seratti · Victor Munoz · Norberto Guelbert · Raul Jalil · Daniel Velazquez · Francisco Pueyrredon · Guillermo Guelbert · Roberto Caraballo · Tatiana Rodrigo · Tatiana Rodrigo
Variable clinical features and progression in 18 patients with Pompe disease Abhinav Grover · Jeffrey Y. Huang · Raymond Y. Wang · Raymond Y. Wang
5-year longitudinal assessment of ocular manifestations in Fabry patients Kevin Stroek · Marelle J. Bouva · Peter Schielen · Frédéric M. Vaz · Annemieke Heijboer · Annemieke Heijboer · Robert de Jonge · Robert de Jonge · Anita Boelen · Annet M. Bosch · Annet M. Bosch
Lysosomal acid lipase deficiency with no demonstrable abnormalities on in vitro enzymatic assay − First described case confirmed after 27 months of sebelipase alfa therapy Andrew Baik · Nina Aaron · Matthew S. Birnbaum · Christopher J. Schoenherr · Andrew J. Murphy · Aris N. Economides · Katherine Diana Cygnar · Katherine Diana Cygnar
Diagnosis of Fabry disease in a patient with end stage renal disease on hemodialysis: A case report Joseph J. Shen · Joseph J. Shen
The GM2 ganglioside inhibits iNKT cell responses in a CD1d-dependent manner A. S. Davison · Jo Harrold · Gin Hughes · B.P. Norman · J. Devine · J. Usher · Andrew T Hughes · M. Khedr · J.A. Gallagher · Anna Milan · Halford J.C.G. · Lakshminarayan Ranganath · Lakshminarayan Ranganath
Early onset of the pathological phenotype in line 61 α-synuclein transgenic mice Yanyan Peng · Benjamin Liou · Venette Inskeep · Rachel Blackwood · Christopher N. Mayhew · Ying Sun · Ying Sun
Mission: hide and help: Sanfilippo syndrome awareness campaign Jin Sug Kim · Yu Ho Lee · Su Woong Jung · Kyung Hwan Jeong · Tae Won Lee · Yang-Gyun Kim · Ju Young Moon · Sang-Ho Lee · Chun Gyoo Ihm · Chun Gyoo Ihm
Gaucher disease in Ontario, Canada: Clinical manifestation, natural disease progression, and treatment response Stefanie Flunkert · Ewald Auer · Roland Rabl · Stephan Duller · David Amschl · Joerg Neddens · Vera Niederkofler · Birgit Hutter-Paier · Birgit Hutter-Paier
How many sulphatase deficiencies become multiple: An unusual presentation of multiple sulphatase deficiency Jill Wood · Jill Wood
Neurophysiology of hearing in patients with mucopolysaccharidosis type IV Dominick Amato · Chi Yun Yu · Syed Wasim · Syed Wasim
Long term renal function in patients with Fabry disease Heather J. Church · Kathryn L. Brammeier · June Petty · Christine Egerton · Jessica Righart · Lesley Heptinstall · Simon Arnett Jones · Karen Tylee · Karen Tylee
Optimization of CRISPR mediated genome correction of Pompe disease-specific GAA mutations in C2C12 mouse myoblasts Melodie Melbouci · Melodie Melbouci · Robert W. Mason · Yasuyuki Suzuki · Toshiyuki Fukao · Tadao Orii · Shunji Tomatsu · Shunji Tomatsu · Shunji Tomatsu · Shunji Tomatsu
CLN2 disease (neuronal ceroid lipofuscinosis type 2): Experience in the real world with cerliponase alfa intracerebroventricular enzyme replacement therapy in a public hospital in Cordoba, Argentina Michael Nafisinia · Minal J. Menezes · Minal J. Menezes · Wendy A. Gold · Wendy A. Gold · Lisa G. Riley · Lisa G. Riley · Joshua Hatch · Joshua Hatch · John Cardinal · David Coman · David Coman · John Christodoulou · John Christodoulou
Growth impairment in mucopolysaccharidoses Kimiyo Raymond · Jean M. Lacey · Gavrilov Dimitar · Dietrich Matern · Devin Oglesbee · Piero Rinaldo · Silvia Tortorelli · Silvia Tortorelli
Tread carefully: A functional variant in the human NADPH oxidase 4 ( NOX4 ) is not disease causing Anna Tylki-Szymańska · Paulina Szymańska-Rożek · Piotr Hasiński · Agnieszka Ługowska · Agnieszka Ługowska
Mucopolysaccharides quantitation in serum by liquid chromatography-tandem mass spectrometry Nicole Truong · Raymond Y. Wang · Nina Movsesyan · Nina Movsesyan
Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes – A statistical insight Liliya A. Osipova · Ludmila Kuzenkova · Tatyana Podkletnova · Leyla Namazova-Baranova · Elena L. Semikina · Elena L. Semikina
Two-year follow-up of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease type C1 Alberto Burlina · Giulia Polo · Leonardo Salviati · Giovanni Duro · Carmela Zizzo · Andrea Dardis · Bruno Bembi · Chiara Cazzorla · Laura Rubert · Roberta Zordan · Robert J. Desnick · Alessandro P. Burlina · Alessandro P. Burlina
Hypoalbuminemia in children with mucopolysaccharidoses treated with valproate Laura López de Frutos · Jorge J. Cebolla · Pilar Irún · Pilar Giraldo · Pilar Giraldo
Neonatal screening for lysosomal disorders in Italy: The initial 17-month experience Jin-Song Shen · Kunitoshi Shigeyasu · Yoshinaga Okugawa · Taniqua S. Day · Raphael Schiffmann · Ajay Goel · Ajay Goel
Discovery study for new genetic variants related to Niemann-Pick disease type C Ken Momosaki · Keishin Sugawara · Shinichiro Yoshida · Fumio Endo · Kimitoshi Nakamura · Kimitoshi Nakamura
α-Galactosidase A activity modulates DNA methylation of androgen receptor promoter in Fabry disease endothelial cells Cristin Davidson · Alana L. Gibson · Tansy Gu · Randy J. Chandler · Benjamin E. Deverman · Viviana Gradinaru · Charles P. Venditti · William J. Pavan · William J. Pavan
Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwide Juan Politei · Gustavo Cabrera · Consuelo Durand · Joaquin Frabasil · Andrea Schenone · Andrea Schenone
A pilot study of high-risk screening for neuronopathic Gaucher disease in Japan Livia Paskulin · Alícia Dorneles Dornelles · Tatiéle Nalin · Amanda Quevedo · Kristiane Michellin Tirelli · Ida Vanessa Doederlein Schwartz · Ida Vanessa Doederlein Schwartz
Gene therapy for the treatment of Niemann-Pick disease type C1: Comparison of AAV9 to a novel serotype, AAV-PHP.B Natasha Zeid · Chanan Stauffer · Amy Yang · Manisha Balwani · Manisha Balwani
Breastfeeding in Gaucher disease: is taliglicerase-alpha safe? Nina Raben · Evelyn Ralston · Yi Lun · Abdul S. Ponery · Michelle Frascella · Anadina Garcia · Kenneth J. Valenzano · Russel Gotschall · Hung Do · Richie Khanna · Rosa Puertollano · Rosa Puertollano
Characterization of N409H/R535H (N370S/R496H) genotype in type 1 Gaucher disease Stephan C. J. Huijbregts · Annet M. Bosch · Quirine A. Simons · Rianne Jahja · Martijn C. G. J. Brouwers · Leo M. J. de Sonneville · Maaike C. de Vries · Floris C. Hofstede · Carla E. M. Hollak · M. Janssen · Janneke G. Langendonk · M. Estela Rubio-Gozalbo · Jaap J. van der Meere · Ans T. van der Ploeg · Francjan J. Van Spronsen · Francjan J. Van Spronsen
A major advance in the search for more effective therapy for Pompe disease C.S. Pereira · C.S. Pereira · H. Ribeiro · H. Ribeiro · H. Ribeiro · B. Pérez-Cabezas · B. Pérez-Cabezas · M.T. Cardoso · N. Alegrete · Ana Gaspar · E. Leão-Teles · M.F. Macedo · M.F. Macedo · M.F. Macedo · M.F. Macedo
The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study Lakshminarayan Ranganath · M. Khedr · Anna Milan · A.S. Davison · Andrew T Hughes · Jeannette Usher · S. Taylor · N. Loftus · Anna Daroszewska · Anna Daroszewska · E. West · A. Jones · M. C. Briggs · M. Fisher · M. McCormick · S. Judd · Sobhan Vinjamuri · R. Griffin · Eftychia E Psarelli · Trevor Cox · Nicolas Sireau · J.P. Dillon · J. Devine · Gin Hughes · J. Harrold · Gabor Barton · Jonathan C. Jarvis · J.A. Gallagher · J.A. Gallagher
Demonstration of a digital microfluidic platform for the high throughput analysis of 12 discrete fluorimetric enzyme assays using a single newborn dried blood spot punch Mehul Mistri · Ashwin Dalal · Payal Nath · Sheela Nampoothiri · Sanjeev Mehta · Ankur Singh · Frenny Sheth · Jayesh Sheth · Jayesh Sheth
Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan Elizabeth Braunlin · Luisa Bay · Nathalie Guffon · Kristin Moy · Meng Yang · Nicolas Pangaud · Lorne A. Clarke · Lorne A. Clarke
Development of automated enzymatic assays for NAGLU, GALNS, ARSB and TPP1 for high throughput newborn screening using digital microfluidics Raj Singh · Shaileja Chopra · Carrie Graham · Lisa Nelson · Rainer Ng · Miriam Nuffer · Pranathi Vadlamani · Scott Norton · Vamsee K. Pamula · Vamsee K. Pamula
Diagnosis of mucopolysaccharidoses Samantha Parker · Sophie Olivier · Philippe Drevot · Anupam Chakrapani · Bénédicte Héron · Roberto Giugliani · Nicole Muschol · Frits A. Wijburg · Frits A. Wijburg
ZFN-mediated in vivo genome editing of hepatocytes results in phenotypic correction in murine MPS I and MPS II models Chester B. Whitley · Timothy J. Moss · Amy Gaviglio · Katie A. Wiens · Lynn Schema · Li Ou · Li Ou
From rodent heart to inborn errors of human metabolism Petra Oliva · Mahmud Hossain · Monica Lane · Martha Stapels · Cécile Orsini · Jean-Michel Itier · Matthew Birket · Wendy E. Heywood · Valeria Nikolaenko · Justyna Spiewak · Ivan Doykov · Kevin Mills · John P. Leonard · Kathy Klinger · Kate Zhang · Kate Zhang
Enhancements to the Rare Diseases Clinical Research Network Contact Registry N. Matthew Ellinwood · Bethann Valentine · Andrew Hess · Jackie K. Jens · Elizabeth M. Snella · Wendy A. Ware · Shannon J. Hostetter · Gil Ben-Shlomo · Nick D. Jeffery · Sina Safayi · Jodi D. Smith · Suzanne T. Millman · Rebecca L. Parsons · Mark Butt · Jonathan D. Cooper · Igor Nestrasil · Heather Prill · Xiao Liu · Huiyu Zhou · Roger Lawrence · Brett E. Crawford · Anita Grover · Andrew Melton · Anu Cherukuri · Jill C.M. Wait · Jason Pinkstaff · Emma McCullagh · Emma McCullagh
Fabry disease revisited: Management and treatment recommendations for adult patients Jing Li · Jun Chen · Sebaastian J.M. Gaemers · M. Judith Peterschmitt · Audrey W. Hou · Yong Xue · Sandrine Turpault · Dan Rudin · Dan Rudin
α-galactosidase activity increases after short-term treatment with migalastat in patients with Fabry disease Irene J. Chang · Remwilyn Dayuha · Jeongho Lee · Sunhee Jung · Rhona M. Jack · Christina Lam · John Lawrence Merritt · Angela Sun · Regine M. Schoenherr · Jeffrey R. Whiteaker · Amanda G. Paulovich · Sihoun Hahn · Sihoun Hahn
Guided growth surgery for genu valgum in mucopolysaccharidosis type VI: Timing is everything Thomas Kirkegaard · Cathrine Kolster Fog-Tonnesen · Paola Zago · Erika Malini · Lukasz Solanko · Claus Bornæs · Raffaella Magnoni · Nikolaj H.T. Petersen · Bruno Bembi · Andrea Dardis · Andrea Dardis
Quantification of enzyme activities of lysosomal disorders in a neonatal population using mass spectrometry Benjamin McMahon · Elma Aflaki · Ellen Sidransky · Ellen Sidransky
Arimoclomol, a clinical candidate for neuronopathic Gaucher disease, increases glucocerebrosidase activity through amplification of heat shock proteins Nicolas Fernandez Escobar · Maria Silvia Larroude · Gabriel Aguilar · I. Rossi · L.R. Brun · Guillermo Drelichman · Guillermo Drelichman
Use of trabecular bone score (TBS) as a complementary approach to bone mineral density (BMD) in Gaucher disease patients treated with imiglucerase Rina Itagaki · Hiroko Yanagisawa · Mohammad Arif Hossain · Keiko Akiyama · Keiko Yaginuma · Takashi Miyajima · Chen Wu · Takeo Iwamoto · Junko Igarashi · Yu Kobayashi · Jun Tohyama · Kazuhiro Iwama · Naomichi Matsumoto · Haruo Shintaku · Yoshikatsu Eto · Yoshikatsu Eto
Treatment of Pompe disease with VAL-1221 Roselena Silvestri Schuh · Édina Poletto · Graziella Rodrigues · Camila Vieira · Fabiola Schons Meyer · Roberto Giugliani · Ursula da Silveira Matte · Helder Ferreira Teixeira · Guilherme Baldo · Guilherme Baldo
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type Sam E. Gary · Elma Aflaki · Bahafta Berhe · Daniel S. Ory · Ellen Sidransky · Ellen Sidransky
PK/PD modeling and simulation of recombinant human ASA in patients with metachromatic leukodystrophy: A preliminary evaluation Mrudu Herbert · Gail A. Spiridigliozzi · Steven T. Chen · Mihaela Stefanescu · Stephanie Austin · James M. Provenzale · Priya S. Kishnani · Priya S. Kishnani
The subclinical phenotype of cardiac Fabry disease Hemanth R. Nelvagal · Charles Shyng · Mark S. Sands · Jonathan D. Cooper · Jonathan D. Cooper
Cognition and brain involvement in infantile Pompe disease Alexey V. Pshezhetsky · Xuefang Pan · Rachel Héon-Roberts · Shao-Gang Li · Harry Y. Wu · Mahsa Taherzadeh · Camila De Britto Pará De Aragão · Jill Wood · Sean Ekins · Robert Boyd · Joel S. Freundlich · Joel S. Freundlich
Early gait abnormalities relate to brainstem and spinal cord pathology in CLN1 disease Dietrich Matern · Silvia Tortorelli · Devin Oglesbee · Dimitar Gavrilov · Kimiyo Raymond · Jeremy Hart · Lea Mott · Piero Rinaldo · Piero Rinaldo
Chaperone therapy for mucopolysaccharidosis type IIIC Lynda E. Polgreen · Klane K. White · Kyle Rudser · Jeremiah Menk · Bradley S. Miller · Ellen B. Fung · Julie Eisengart · Troy C. Lund · Paul J. Orchard · Paul J. Orchard
Precision newborn screening for three lysosomal disorders in Kentucky Mindy Zhang · Yi-Chien Chang · Mei Han · Rachel Palmer · Rena Baek · Stephen L. Madden · Katherine W. Klinger · Katherine W. Klinger
Defining clinical measures of skeletal disease severity in mucopolysaccharidosis type I Adam Davis · Erik Lykken · Amit Sharma · Linas Padegimas · Scott Kerns · Steven J. Gray · Steven J. Gray
Transcriptome analysis in muscle biopsies of late-onset Pompe patients treated with alglucosidase alfa or neoGAA Araceli Borja-Borja · Gabriela Salas-Pérez · Azucena Sánchez-Ortega · Fátima Sierra · Juan C. Pérez-García · Ernesto Hernández-Jiménez · Luis Meneses · Pablo Radillo-Díaz · Pablo Radillo-Díaz
AAV vector comparability across mammalian and insect cell production platforms for treatment of lysosomal diseases Asaka Katabuchi · Katherine Santostefanos · Naohiro Terada · Gustavo Maegawa · Gustavo Maegawa
Lysosomal diseases in ophthalmology Jin-Song Shen · Xingli Meng · Arning Erland · Taniqua S. Day · Siamak Jabbarzadeh-Tabrizi · Robin J. Ziegler · Teodoro Bottiglieri · Seng Cheng · Raphael Schiffmann · Raphael Schiffmann
Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression Magy Abdelwahab · Magy Abdelwahab
Multiplex UPLC-MS/MS assay of 8 lysosomal disorders in newborn screening Steven Troy · Margaret Wasilewski · C.J. Godfrey · C.J. Godfrey
Effect of ERT on autophagy and mitochondrial functions with Fabry disease Dietrich Matern · Dimitar Gavrilov · Devin Oglesbee · Kimiyo Raymond · Silvia Tortorelli · Jeremy Hart · Lea Mott · Joanne Kurtzberg · Vinod K. Prasad · Piero Rinaldo · Piero Rinaldo
Osteopenia in Egyptian Gaucher disease type 3 patients: An 11 year prospective study Allison Foley · Stephanie Cagle · Arthur Hagar · Patricia L. Hall · Dawn Laney · Rossana Sanchez Russo · Angela Wittenauer · William R. Wilcox · William R. Wilcox
Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD) Carolina Aranda · E.O. Dantas · Natalia Vieira Dias · Juliana Themudo Lessa Mazzucchelli · Marcia Carvalho Mallozi · Gustavo Falbo Wandalsen · Dirceu Solé · Beatriz Tavares Costa-Carvalho · Ana Maria Martins · Ana Maria Martins
Planning, implementation, and initial results of newborn screening for Pompe disease and MPS I in Georgia Patricia Moreno · Alfredo Uribe Ardila · Alfredo Uribe Ardila
Can a mucopolysaccharidosis also be a primary immunodeficiency Juan Politei · Valeria Alberton · Oscar Amoreo · Norberto Antongiovanni · Maria Nieves Arán · Marcelo Barán · Gustavo Cabrera · Silvia Di Pietrantonio · Consuelo Durand · Alejandro Fainboim · Joaquin Frabasil · Fernando Gomez Pizarro · Miguel Liern · Fernando Perretta · Diego Ripeau · Fernanda Tognolo · Hernán Trimarchi · Dana Velasques Rivas · Elsa Zotta · Andrea Schenone · Andrea Schenone
Implementation of internal quality control for the determination of the activity of lysosomal enzymes in dried blood samples Juan M. Romero Trejo · Sergio R. Figueroa Sauceda · Guillermo Valadez Juvera · Guillermo Valadez Juvera
Clinical, serum lyso-Gl3 and kidney histological findings in 14 pediatric patients with classic phenotype of Fabry disease: Is it possible a correlation? Paul Harmatz · Federica Cattaneo · Diego Ardigò · Silvia Geraci · Nicole Muschol · Yasmina Amraoui · Mercedes Gil-Campos · Anna Tylki-Szymańska · Frits A. Wijburg · Linda De Meirleir · Johanna Mp Van Den Hout · Christine I. Dali · Simon Arnett Jones · Allan M. Lund · Line Borgwardt · Nathalie Guffon · Nathalie Guffon
Aortic stenosis in Fabry disease patients Shunji Tomatsu · Francyne Kubaski · Robert W. Mason · Roberto Giugliani · Seiji Yamaguchi · Yasuyuki Suzuki · Yasuyuki Suzuki
Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages Paul Harmatz · Federica Cattaneo · Diego Ardigò · Silvia Geraci · Yasmina Amraoui · Mercedes Gil-Campos · Linda De Meirleir · Nicole Muschol · Anna Tylki-Szymańska · Frits A. Wijburg · Johanna Mp Van Den Hout · Nathalie Guffon · Christine I. Dali · Simon Arnett Jones · Allan M. Lund · Line Borgwardt · Line Borgwardt
Newborn screening for mucopolysaccharidoses by GAG assay with tandem mass spectrometry Scott Norton · Shaileja Chopra · Pranathi Vadlamani · Raj Singh · Vamsee K. Pamula · Vamsee K. Pamula
Genetic testing for lysosomal disorders in a commercial laboratory: Use of pathognomonic criteria in variant interpretation Sabrina Nordin · Rebecca Kozor · Shanat Baig · Michel Tchan · Tarekegn Geberhiwot · Elaine Murphy · Robin H. Lachmann · Atul Mehta · Nicola C. Edwards · Uma Ramaswami · Richard P. Steeds · Derralynn Hughes · James C. Moon · James C. Moon
Impact of hepatic and renal impairment on the pharmacokinetics and tolerability of eliglustat Lynda E. Polgreen · Troy C. Lund · Julie Eisengart · Weston P. Miller · Paul J. Orchard · Paul J. Orchard
Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders Laura Murillo · Rachel Harte · Stacey Wong · Yuan-Yuan Ho · Daniel Beltran · Michelle Fox · Hannah White · Tom Winder · Britt Johnson · Britt Johnson
Gender, mutations and residual enzymatic activity: Investigation of predictive factors of alpha-mannosidosis phenotypic presentation and of response to velmanase alfa long term enzyme replacement therapy Albina Nowak · Sarah H. Haile · David C. Kasper · Thomas P. Mechtler · Andreas J. Flammer · Pierre A. Krayenbuehl · Daniel Franzen · Daniel Franzen
A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients Pin-Wen Chen · Wuh-Liang Hwu · Yin-Hsiu Chien · Yu-Rou Shiu · Michael H. Gelb · Michael H. Gelb
A phase 1/2 clinical trial of systemic gene transfer of scAAV9.U1a.HSGSH for MPS IIIA: Safety, tolerability, and preliminary evidence of biopotency Karen Dublán-García · Karen Dublán-García
Experience with two different enzyme replacement therapies in siblings with Fabry disease: 2 years follow up analysis Bianca Dimitrov · Nastassja Himmelreich · Agnes L. Hipgrave Ederveen · Christian Lüchtenborg · Jürgen G. Okun · Maximilian Breuer · Anna Marlen Hutter · Matthias Carl · Matthias Carl · Luca Guglielmi · Luca Guglielmi · Andrea Hellwig · Kai Christian Thiemann · Markus Jost · Verena Peters · Christian Staufner · Georg Hoffmann · Annette Hackenberg · Nagarajan Paramasivam · Nagarajan Paramasivam · Stefan Wiemann · Roland Eils · Matthias Schlesner · Sabine Strahl · Britta Brügger · Manfred Wuhrer · G. Christoph Korenke · Christian Thiel · Christian Thiel
Systemic mRNA therapy for the treatment of Fabry disease: Preclinical studies in GLA-deficient mice and rats, and wild-typenon-human primates K.M. Flanigan · K.V. Truxal · K.L. McBride · K.A. McNally · K.L. Kunkler · N.A. Zumberge · L. Martin · S. Aylward · M. Corridore · Juan Ruiz · C. McKee · D. McCarty · T.R. Simmons · T.R. Simmons
State of national implementation for lysosomal diseases Xuling Zhu · Ling Yin · Jenny Zhuo · James J. Miller · Summar Siddiqui · Matt Theisen · Becca Levy · Rebecca Howell · Vladimir Presnyak · Angela K. Beltrame · Carly A Murphy · Andrea Frassetto · Joe Milano · Andy Lynn · Gilles Besin · Kerry E. Benenato · Christine M. Lukacs · Nancy M. Dahms · Lin Tung Guey · Paolo Martini · Paolo Martini
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine (Lyso-Gb3) and time to initiation of enzyme replacement therapy, an observational study Sara E. Mole · E. Gardner · Angela Schulz · Winnie Xin · Winnie Xin
Identification of a novel mutation in the α-galactosidase A gene in a large family using NGS platform Amy Gaviglio · Kshea Hale · Kshea Hale
In Anderson-Fabry disease can early improvement in eGFR predict prognosis over 5 years? Anita Grover · Emma McCullagh · Mika Aoyagi-Scharber · Stephen M. Maricich · Jill C.M. Wait · Andrew Melton · Huiyu Zhou · Roger Lawrence · Heather Prill · Brett E. Crawford · Joshua W. Henshaw · Joshua W. Henshaw
Asymptotic neurodegeneration in CLN2 disease assessed by MRI cortical thickness histograms Robert J. Hopkin · Dominique P. Germain · Daniel G. Bichet · Daniel J. Gruskin · Roberta Lemay · João Paulo Oliveira · Juan Politei · Christoph Wanner · William R. Wilcox · Han-Wook Yoo · David G. Warnock · David G. Warnock
Gaucheroma mimicking hepatocellular carcinoma in a cirrhotic type I Gaucher disease patient Juliette Bouchereau · Edward L. Huttlin · Virginia Guarani · Samia Pichard · Yair Anikster · Manuel Schiff · Manuel Schiff
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG Jonathan P. Dyke · Henning U. Voss · Dolan Sondhi · Stephen M. Kaminsky · Jacqlyn Blatteis · Linda Heier · Barry E. Kosofsky · B.J. Casey · Ronald G. Crystal · Douglas Ballon · Douglas Ballon
Translational dose-response and frequency scaling for BMN 250 administered via the intracerebroventricular route: Predicting a clinically effective dosing regimen from animal models of disease for the treatment of Sanfilippo syndrome type B Rodrigo Tzovenos Starosta · Alícia Dorneles Dornelles · Filippo Pinto e Vairo · Carlos Thadeu Schmidt Cerski · Suelen Porto Basgalupp · Mário Reis Álvares-da-Silva · Sandra Leistner-Segal · Ida Vanessa Doederlein Schwartz · Ida Vanessa Doederlein Schwartz
Investigator-initiated clinical trial of intra-cerebroventricular enzyme replacement therapy for neuronopathic mucopolysaccharidosis type II Gustavo Falbo Wandalsen · Fernanda Pereira Monteiro · Carolina Aranda · Jales Henrique P. de Lima · Patrícia P. Jorge · Julio C. Gontijo · Dirceu Solé · Ana Maria Martins · Ana Maria Martins
Medical histories in Gaucher disease: a descriptive analysis from 852 patients in the Gaucher Outcome Survey (GOS) Jirair K. Bedoyan · Samuel P. Yang · Sacha Ferdinandusse · Rhona M. Jack · Alexander Miron · George Grahame · Suzanne D. DeBrosse · Charles L. Hoppel · Douglas S. Kerr · Douglas S. Kerr
Maintenance of quality of life in adults with type 1 Gaucher disease previously stabilized on enzyme therapy who were switched to oral eliglustat: 4 year results of the ENCORE trial Carlos J. Alméciga-Díaz · Sergio Olarte-Avellaneda · Sergio Olarte-Avellaneda · Alexander Rodríguez-López · Alexander Rodríguez-López
Identification of relevant clinical niches in rare inherited metabolic diseases: Niemann-Pick disease type C as a model Yin-Hsiu Chien · Pin-Wen Chen · Ping-Chun Wang · Shu-Chuan Chiang · Wuh-Liang Hwu · Wuh-Liang Hwu
Novel LIPA mutations resulting in lysosomal acid lipase deficiency Richard Roberts · Laura Rodríguez-Pascau · Ana Maria Garcia · Elena Cubero · Pilar Pizcueta · Aida Delgado · Marc Revés · Natalia Pérez · Ana Ruano · Joan Aymamí · Katsumi Higaki · Daniel Grinberg · Lluïsa Vilageliu · Marc Martinell · Xavier Barril · Xavier Barril
Detection of three families with GLA p.A143T mutation and low α-galactosidase levels by newborn screening for Fabry disease Alia Ahmed · Elsa Shapiro · Kyle Rudser · Chester B. Whitley · Chester B. Whitley
Structural basis of Hunter syndrome and construction of a database of mutant iduronate 2-sulfatase Troy C. Lund · Weston P. Miller · Linda Polgreen · Gerry V. Raymond · Jakub Tolar · Paul J. Orchard · Paul J. Orchard
Patient derived phenotypic high throughput assay to discover treatments for Tay-Sachs disease Samantha A. Marcellus · Myrl Holida · John A. Bernat · John A. Bernat
Identification of lysosomal acid lipase (LAL) deficiency patients using key existing clinical data points focused on BMI, type 2 hyperlipidemia, and/or fatty liver disease Hitoshi Sakuraba · Seiji Saito · Kazuki Ohno · Kazuki Ohno
Dietary effects on glycosaminoglycan storage in MPS IIIB Marlene A. Jacobson · Dennis J. Colussi · Dennis J. Colussi
Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are likely underrepresented in the medical literature and are underdiagnosed Alaa Hamed · Lubomyra Nalysnyk · Milki Tilimo · Robert Krupnick · Alex Gee · Alex Gee
Modeling of changes in forced vital capacity and late-onset Pompe disease related outcomes Elena V. Zaklyazminskaya · Margarita Polyak · Olga Blagova · Sergei Dzemeshkevich · Sergei Dzemeshkevich
Novel molecular tools to advance the evaluation of Gaucher disease therapeutics in live cells Alexander Solyom · Ekene O Nwosu · John J. Mitchell · Michael Beck · Boris Hügle · Dustin Tetzl · Edward H. Schuchman · Edward H. Schuchman
Infantile gangliosidoses: candidate outcome measures for future treatment trials OIive Jung · Samarjit Patnaik · Wendy Westbroek · Shawn J. Stachel · Michael J. Breslin · Paige E. Cramer · Steve Titus · Ty C. Voss · Juan J. Marugan · Ellen Sidransky · Ellen Sidransky
Combined therapeutic approach to protein losing enteropathy complicating type 3 Gaucher disease using eliglustat Raphael Schiffmann · Caren Swift · Nathan McNeill · Elfrida R. Benjamin · Lawrence Sweetman · Xuan Wang · Xiaoyang Wu · Xiaoyang Wu
Development, analytical validation and implementation of a next generation sequencing panel to assess lysosomal diseases Leyla Namazova-Baranova · Kirill V. Savostyanov · Alexey Sukhozhenko · Alexander Pushkov · Nataliya Mazanova · Alexander Pakhomov · Baranov Aa · Baranov Aa
ZFN-mediated in vivo genome editing results in phenotypic correction in murine MPS I and MPS II models Jeanine Utz · Sarah Kim · Kelly King · Richard Ziegler · Lynn Schema · Evelyn Redtree · Chester B. Whitley · Chester B. Whitley
Delivery of lysosomal enzymes via EXPLOR: exosome engineered for protein loading by optogenetically reversible protein interaction Soumeya Bekri · Bénédicte Sudrié-Arnaud · Françoise Charbonnier · Hélène Dranguet · Sophie Coutant · Myriam Vezain · Raphaël Lanos · Isabelle Tournier · Pascale Saugier-Veber · Pascale Saugier-Veber
A long-term extension study evaluating intrathecal idursulfase-IT in children with Hunter syndrome and cognitive impairment Hojun Choi · Nambin Yim · Seung-Wook Ryu · Kyungsun Choi · Chulhee Choi · Chulhee Choi
Looking for diamonds in the rough: identifying differentially expressed modifier genes in mouse models for type 2 Gaucher disease Rania Sheikh · Thao-Chi Vo · Zahra Bakhtiar · Ozlem Goker-Alpan · Heather Lau · Heather Lau
Fibrointimal thickening, elastin fragmentation and activated macrophages observed in coronary vasculature of a human mucopolysaccharidosis type VII patient Richard Grey · Niraj Trivdei · Kory R. Johnson · Ashley N. Gonzalez · Bahafta Berhe · Abdel G. Elkahloun · Ellen Sidransky · Nahid Tayebi · Nahid Tayebi
Urinary glycosaminoglycan levels in a mucopolysaccharidosis type II pediatric population receiving idursulfase therapy: datafrom the Hunter Outcome Survey (HOS) for patients aged <18 months Cynthia A Smith · Cynthia A Smith
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study Lía Mayorga · Beatriz Gamboni · Alejandra Mampel · María Roqué · María Roqué
Improvement of Fabry disease pain with calcium gluconate infusions given at time of agalsidase beta therapy Kasturi Haldar · Kasturi Haldar
Renal involvement in PMM2-CDG, a mini-review Elsa Shapiro · Alia Ahmed · Chester B. Whitley · Kathleen R. Delaney · Kathleen R. Delaney
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay David Cassiman · Seymour Packman · Bruno Bembi · Hadhami Ben Turkia · Moeenaldeen Al-Sayed · Jackie Imrie · Paulina Mabe · Tsutomu Takahashi · Karl Eugen Mengel · Roberto Giugliani · Gerald F. Cox · Gerald F. Cox

Confirmatory assays for alpha-glucosidase enzymatic values using glycogen: An improving test for the diagnosis of Pompe disease
Molecular Genetics and Metabolism | 2018
Thomas J. Langan · Amy Barczykowski · Kabir Jalal · Laura Sherwood · Heather Allewelt · Joanne Kurtzberg · Randy L. Carter · Randy L. Carter
Outcomes of newborn screening for Gaucher disease in Illinois
Molecular Genetics and Metabolism | 2018
Ana Pinto · Anabela Bandeira · Isabel Carvalho · Arlindo Guimas · Paul Harmatz · Esmeralda Martins · Esmeralda Martins