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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Sociedade Brasileira de Genética 2011
Schlagworte:
Human and Medical Genetics
Online Zugang: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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