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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Detalles Bibliográficos
Autores principales: Vairo, Filippo, Federhen, Andressa, Baldo, Guilherme, Riegel, Mariluce, Burin, Maira, Leistner-Segal, Sandra, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2015
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634832/
https://www.ncbi.nlm.nih.gov/pubmed/26586959
http://dx.doi.org/10.2147/TACG.S68650

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634832/
https://www.ncbi.nlm.nih.gov/pubmed/26586959
http://dx.doi.org/10.2147/TACG.S68650

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