Isolated isobutyryl-CoA dehydrogenase deficiency: An unrecognized defect in human valine metabolism

Molecular Genetics and Metabolism

Volumn 65, Issue 4, 1998, Pages 264-271

  Roe, Charles R ^a   Cederbaum, Stephen D ^b   Roe, Diane S ^a   Mardach, Rebecca ^b   Galindo, Alvaro ^b   Sweetman, Lawrence ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b UCLA MEDICAL CENTER   (United States)

Author keywords

Acylcarnitine; Branched chain amino acids; Cardiomyopathy; Carnitine; Dehydrogenase; Isobutyryl CoA; Valine

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; BRANCHED CHAIN AMINO ACID; CARNITINE; COENZYME A; ISOBUTYRIC ACID; ISOLEUCINE; LEUCINE; OXIDOREDUCTASE; VALINE;

AMINO ACID METABOLISM; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; ISOTOPE LABELING; MITOCHONDRIAL RESPIRATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0032430115     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2758     Document Type: Article

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