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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,...

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Detalhes bibliográficos
Publicado no:Korean J Pediatr
Main Authors: Kim, Ja Hye, Chi, Yang Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Jun Hwa
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177708/
https://ncbi.nlm.nih.gov/pubmed/28018442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S37
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