Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy

Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patient...

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Detalhes bibliográficos
Main Authors: Viana, Gustavo M., de Lima, Nathália O., Cavaleiro, Rosely, Alves, Erik, Souza, Isabel C.N., Feio, Raimunda, Leistner-Segal, Sandra, Schwartz, Ida, Giugliani, Roberto, da Silva, Luiz C. Santana
Formato: Artigo
Idioma:Inglês
Publicado em: Sociedade Brasileira de Genética 2011
Assuntos:
Human and Medical Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3168179/
https://ncbi.nlm.nih.gov/pubmed/21931511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572011005000025
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