AB082. Phenotype and genotype of Vietnamese patients with mucopolysaccharidosis II: first case series report

BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked lysosomal storage disorder. MPS II is caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and heparan s...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Transl Med
Egile Nagusiak: Hang, Le Thi Thuy, Dung, Vu Chi, Tomatsu, Shunji, Yen, Nguyen Thi, Hung, Trinh Thanh, Ngoc, Can Thi Bich, Nguyen, Ngoc Khanh, Hwu, Wuh-Liang, Ki, Gu-Hwan, Yoo, Han-Wook
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: AME Publishing Company 2015
Gaiak:
Part 4: Oral/poster
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563500/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB082
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