A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB

Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme α-N-acetylglucosaminidase (NAGLU) that is required for degradation of heparan sulfate. The patient in this study was a 4-yr-old boy. He presented with normal height and weight, pectus carinat...

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Main Authors: Kim, Young-Eun, Park, Hyung-Doo, Jang, Mi-Ae, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Cho, Sung Yoon, Jin, Dong-Kyu
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3646201/
https://ncbi.nlm.nih.gov/pubmed/23667853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.3.221
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