Cargando…

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation,...

Descripción completa

Detalles Bibliográficos
Autores principales: Kim, Ja Hye, Chi, Yang Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Jun Hwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177708/
https://www.ncbi.nlm.nih.gov/pubmed/28018442
http://dx.doi.org/10.3345/kjp.2016.59.11.S37