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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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發表在: | Ann Transl Med |
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Main Authors: | , , , , |
格式: | Artigo |
語言: | Inglês |
出版: |
AME Publishing Company
2015
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主題: | |
在線閱讀: | 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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