Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene

Abstract Background Sanfilippo syndrome B (or mucopolysaccharidosis type IIIB [MPS IIIB]) is a severe inherited metabolic disorder caused by mutations in the NAGLU gene, encoding α‐N‐acetylglucosaminidase. Dysfunction of this enzyme results in impaired degradation of heparan sulfate, one of glycosam...

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Bibliographic Details
Main Authors: Karolina Pierzynowska, Arkadiusz Mański, Monika Limanówka, Jolanta Wierzba, Lidia Gaffke, Paulina Anikiej, Grzegorz Węgrzyn
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
genotype
mucopolysaccharidosis
phenotype
Sanfilippo syndrome type B
Online Access:https://doi.org/10.1002/mgg3.1356

Internet

https://doi.org/10.1002/mgg3.1356

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