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

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 glycosaminoglyca...

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Detalles Bibliográficos
Autores principales: Pierzynowska, Karolina, Mański, Arkadiusz, Limanówka, Monika, Wierzba, Jolanta, Gaffke, Lidia, Anikiej, Paulina, Węgrzyn, Grzegorz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507323/
https://www.ncbi.nlm.nih.gov/pubmed/32578945
http://dx.doi.org/10.1002/mgg3.1356

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507323/
https://www.ncbi.nlm.nih.gov/pubmed/32578945
http://dx.doi.org/10.1002/mgg3.1356

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