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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Meta Gene
Main Authors: Giraldo, Gustavo Adolfo, Ayala-Ramírez, Paola, Prieto, Juan Carlos, García-Robles, Reggie, Acosta, Johanna Carolina
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2015
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4733218/
https://ncbi.nlm.nih.gov/pubmed/26909334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mgene.2015.12.004
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