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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2011
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168179/
https://www.ncbi.nlm.nih.gov/pubmed/21931511
http://dx.doi.org/10.1590/S1415-47572011005000025

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