The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused by a deficiency of heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). Here, we report a...

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Main Authors: Huh, Hee Jae, Seo, Ja Young, Cho, Sung Yoon, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Park, Hyung-Doo, 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/PMC3535201/
https://ncbi.nlm.nih.gov/pubmed/23301227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.1.75
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