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

Chiong, Mary Anne D; Tan, Marilyn A; Cordero, Cynthia P; Fodra, Esphie Grace D; Manliguis, Judy S; Lopez, Cristine P; Dalmacio, Leslie Michelle M

Chiong, Mary Anne D; Tan, Marilyn A; Cordero, Cynthia P; Fodra, Esphie Grace D; Manliguis, Judy S; Lopez, Cristine P; Dalmacio, Leslie Michelle M.

Afiliação

Chiong MA; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines.
Tan MA; Department of Pediatrics, Section of Neurology, Philippine General Hospital, University of the Philippines Manila, Philippines.
Cordero CP; Department of Clinical Epidemiology, University of the Philippines Manila, Philippines.
Fodra EG; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines.
Manliguis JS; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines.
Lopez CP; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Philippines.
Dalmacio LM; Department of Biochemistry, University of the Philippines Manila, Philippines.

Mol Genet Metab Rep ; 9: 46-53, 2016 Dec.

Article em En | MEDLINE | ID: mdl-27761412

Palavras-chave

BCAA, branched chain amino acids; BCKAD, branched chain keto acid dehydrogenase; LNAA, large neutral amino acids; MSUD; MSUD, maple syrup urine disease; Neurologic features; Plasma amino acids; Urine organic acids

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Filipinas

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