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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Sociedade Brasileira de Genética 2011
Onderwerpen:
Human and Medical Genetics
Online toegang: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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