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Pediatric Diabetes
Research Hotspot & Journal Scope - syndrome


Pediatric Diabetes - DOI: 10.1111/pedi.12895
Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome

Takeru Yamauchi · Kei Takasawa · Takahiro Kamiya · Shizuka Kirino · Maki Gau · Kento Inoue · Akihiro Hoshino · Kenichi Kashimada · Hirokazu Kanegane · Tomohiro Morio ·

Medicine
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Pediatric Diabetes - DOI: 10.1111/pedi.12915
Is there a link between progranulin, obesity, and parameters of the metabolic syndrome in children? Findings from a longitudinal intervention study

Petra Niklowitz · Juliane Rothermel · Nina Lass · Andre Barth · Thomas Reinehr ·

Medicine
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Pediatric Diabetes - DOI: 10.1111/pedi.12839
A novel 3′ untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non‐autoimmune insulin‐dependent diabetes mellitus syndrome

Melissa Riachi · Firdevs Bas · Feyza Darendeliler · Khalid Hussain ·

Medicine
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Pediatric Diabetes - DOI: 10.1111/pedi.12905
β‐Cell function in obese children and adolescents with metabolic syndrome compared to isolated obesity

Guo-Hua Li · Xue-Feng Chen · Xin-Yi Liang · Hu Lin · Li Zhang · Xiao-Qin Xu · Wei Wu · Ke Huang · Guan-Ping Dong · Jian-Wei Zhang · Susan R Rose · Rahim Ullah · Phil Zeitler · Jun-Fen Fu ·

Medicine
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Material and methods The study included a married couple with a confirmed hidden woman's carriage of Leigh syndrome mutation (37 years old).

55. EFFICACY OF NUCLEAR TRANSFER TO PREVENT THE INHERITED MITOCHONDRIAL PATHOLOGY [10.1016/J.RBMO.2019.04.108]


Collet-Sicard syndrome is an unusual disorder.

Magnetic Resonance Imaging Features of Collet-Sicard Syndrome Associated With Glomus Jugulare Paraganglioma. [10.1097/scs.0000000000005561]


For many, the experience of a complex craniofacial malformation condition, such as Freeman-Burian syndrome (FBS), formerly Freeman-Sheldon syndrome, is deeply distressing.

Identification and Recent Approaches for Evaluation, Operative Counseling, and Management in Patients With Freeman-Burian Syndrome: Principles for Global Treatment. [10.1097/SCS.0000000000005968]


Further urine analysis revealed the pH to be acidic, an unusual finding in purple urine bag syndrome, and a culture grew Staphylococcus aureus.

Purple Urine Bags Syndrome masquerading as a bowel obstruction [10.15761/cmid.1000155]


A scoping review was conducted to examine and evaluate empirical data on the communication profile of Angelman syndrome beyond the described dissociation between receptive language and speech.

Communication in Angelman syndrome: a scoping review [10.1111/dmcn.14257]


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