Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes a step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has a variable age of onset and rate of...

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Main Authors: Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Chiu, Pao Chin, Ke, Yu-Yuan, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Lin, Ju-Li, Lin, Shuan-Pei
格式: Artigo
語言:Inglês
出版: BioMed Central 2014
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3925123/
https://ncbi.nlm.nih.gov/pubmed/24513086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-21
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