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Sanfilippo Syndrome sentence examples within autosomal recessive lysosomal



A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.



A rare NAGLU mutation in an Egyptian family with Sanfilippo B syndrome


Sanfilippo Syndrome sentence examples within lysosomal storage disease



An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA



Insights into Sanfilippo syndrome provided by the ConnectMPS worldwide online registry


Sanfilippo Syndrome sentence examples within rare lysosomal storage



Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients



The natural history of facial features observed in Sanfilippo syndrome (MPS IIIB) using a next generation phenotyping tool



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Sanfilippo Syndrome sentence examples within lysosomal storage disorder



The Complication of Endotracheal Intubation in a Patient with Mucopolysaccharidosis Type IIIA



Mucopolysaccharidosis


Sanfilippo Syndrome sentence examples within central nervous system



Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.



Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA


Sanfilippo Syndrome sentence examples within recessive lysosomal storage



Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016


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Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.



A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.


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10.1016/j.ymgmr.2019.100477

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases


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10.1371/journal.pone.0207836

BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis



In vivo gene therapy for Mucopolysaccharidosis type III (Sanfilippo syndrome): A new treatment horizon.


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10.1016/j.ymgme.2019.05.005

Evaluation of biomarkers for Sanfilippo syndrome.



Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α‐synuclein



Effect of glycosaminoglycans accumulation on the non-oxidative sulfur metabolism in mouse model of Sanfilippo syndrome, type B.


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10.1186/s13023-019-1112-7

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III


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10.1016/J.YMGME.2018.12.285

Meaningful treatment outcomes for Sanfilippo syndrome: A study of caregiver preferences and prioritization


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10.22037/IJCN.V13I4.19894

A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis


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