Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux–Lamy syndrome)

INTRODUCTION: Maroteaux–Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spe...

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Detalles Bibliográficos
Autores principales: Giraldo, Gustavo Adolfo, Ayala-Ramírez, Paola, Prieto, Juan Carlos, García-Robles, Reggie, Acosta, Johanna Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733218/
https://www.ncbi.nlm.nih.gov/pubmed/26909334
http://dx.doi.org/10.1016/j.mgene.2015.12.004

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