AB084. Cause of death and clinical characteristics of 34 mortality patients with mucopolysaccharidosis II in Taiwan, 1995-2012

BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM +309900) is an X-linked recessive, multisystemic lysosomal storage disorder caused by iduronate-2-sulfatase (I2S) deficiency, which catalyzes a step in the catabolism of glycosaminoglycans (GAGs). It leads to accu...

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Detaylı Bibliyografya
Yayımlandı:Ann Transl Med
Asıl Yazarlar: Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Lin, Shio Jean, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lin, Ju-Li, Lin, Shuan-Pei
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: AME Publishing Company 2015
Konular:
Part 4: Oral/poster
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563472/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB084
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