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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Appl Clin Genet
Asıl Yazarlar: Vairo, Filippo, Federhen, Andressa, Baldo, Guilherme, Riegel, Mariluce, Burin, Maira, Leistner-Segal, Sandra, Giugliani, Roberto
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Dove Medical Press 2015
Konular:
Review
Online Erişim: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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