Short-chain acyl-coenzyme A dehydrogenase deficiency

Molecular Genetics and Metabolism

Volumn 95, Issue 4, 2008, Pages 195-200

  Jethva, Reena ^a   Bennett, Michael J ^b   Vockley, Jerry ^c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

Fatty acid oxidation; Inborn errors of metabolism; Newborn screening; Short chain acyl CoA dehydrogenase deficiency

Indexed keywords

BIOCHEMICAL MARKER; BUTYRYL COENZYME A DEHYDROGENASE; CARNITINE; RIBOFLAVIN;

AUTOSOMAL RECESSIVE DISORDER; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CLINICAL EVALUATION; CLINICAL FEATURE; CONFUSION; ENZYME KINETICS; EXCRETION; GENETIC VARIABILITY; HUMAN; LOW FAT DIET; MOLECULAR GENETICS; MUTATION; NEWBORN SCREENING; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SKIN FIBROBLAST; VITAMIN SUPPLEMENTATION;

ACYL-COA DEHYDROGENASES; ANIMALS; FEMALE; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MUTATION; POLYMORPHISM, GENETIC;

EID: 56149106170     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.09.007     Document Type: Review

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