Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features

BACKGROUND: Maple syrup urine disease (MSUD) is the most common inborn error of metabolism in the country. The cause of the neuropathology is still not well established although accumulation of branched chain amino acids (BCAA) and alteration in large neutral amino acids (LNAA) as well as energy dep...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Chiong, Mary Anne D., Tan, Marilyn A., Cordero, Cynthia P., Fodra, Esphie Grace D., Manliguis, Judy S., Lopez, Cristine P., Dalmacio, Leslie Michelle M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065041/
https://ncbi.nlm.nih.gov/pubmed/27761412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.10.004
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