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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065041/
https://www.ncbi.nlm.nih.gov/pubmed/27761412
http://dx.doi.org/10.1016/j.ymgmr.2016.10.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065041/
https://www.ncbi.nlm.nih.gov/pubmed/27761412
http://dx.doi.org/10.1016/j.ymgmr.2016.10.004

Ejemplares similares