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AB127. Enzyme replacement therapy in patient with mucopolysaccharidosis type II: a case report

BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatment of the disease is mainl...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Transl Med
Prif Awduron: Can, Ngoc Thi Bich, Vu, Dung Chi, Le, Hang Thi Thuy, Nguyen, Khanh Ngoc, Bui, Huong Thi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: AME Publishing Company 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563387/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB127
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