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Diagnostic and treatment strategies in mucopolysaccharidosis VI
Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin sulfate, whic...
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| Publicado no: | Appl Clin Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Dove Medical Press
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4634832/ https://ncbi.nlm.nih.gov/pubmed/26586959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S68650 |
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