Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening

Clinical Chemistry and Laboratory Medicine

Volumn 45, Issue 11, 2007, Pages 1495-1497

  Yoo, Eun Hyung ^a   Cho, Hyun Jung ^a   Ki, Chang Seok ^a   Lee, Soo Youn ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

ACAD8 gene; Isobutyryl CoA dehydrogenase; Korea; Mutation

Indexed keywords

ISOBUTYRYL COENZYME A DEHYDROGENASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; ENZYME DEFICIENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; INFANT; MALE; NEWBORN SCREENING; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASES; BASE SEQUENCE; CODON; DNA; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; TANDEM MASS SPECTROMETRY;

EID: 35649027494     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2007.317     Document Type: Article

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