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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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
格式: Artigo
語言:Inglês
出版: Sociedade Brasileira de Genética 2011
主題:
Human and Medical Genetics
在線閱讀: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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