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Mucopolysaccharidosis Type II and the G374sp Mutation
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in accumulation of heparan and dermatan sulfate in many or...
Bewaard in:
| Hoofdauteurs: | , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
S. Karger AG
2013
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3666454/ https://ncbi.nlm.nih.gov/pubmed/23801937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000346842 |
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