Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: A practical confirmatory test for tandem mass spectrometry newborn screening in Japan

Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences

Volumn 823, Issue 2, 2005, Pages 122-130

  Tajima, Go ^a   Sakura, Nobuo ^a   Yofune, Hiroko ^a   Nishimura, Yutaka ^a   Ono, Hiroaki ^a   Hasegawa, Yuki ^b   Hata, Ikue ^c   Kimura, Masahiko ^b   Yamaguchi, Seiji ^b   Shigematsu, Yosuke ^c   Kobayashi, Masao ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b SHIMANE UNIVERSITY   (Japan)

^c UNIVERSITY OF FUKUI   (Japan)

Author keywords

2 Octenoyl CoA; Enzymatic assay; High performance liquid chromatography; Japanese; Medium chain acyl CoA dehydrogenase; Newborn screening; Tandem mass spectrometry

Indexed keywords

BIOASSAY; BIOCHEMISTRY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; RADIOISOTOPES; SCREENING;

2-OCTENOYL-COA; JAPANESE; MEDIUM-CHAIN ACYL-COA DEHYDROGENASE; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY;

ENZYMES;

2 OCTENOYL COENZYME A; COENZYME A; ENZYME; FERROCENIUM HEXAFLUOROPHOSPHATE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; N OCTANOYL COENZYME A; PHOSPHATE; UNCLASSIFIED DRUG;

ANALYTIC METHOD; ARTICLE; CASE REPORT; CELL LYSATE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ETHNIC GROUP; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; INFANT; JAPAN; LYMPHOCYTE; MALE; NEWBORN; NEWBORN SCREENING; PATIENT; PHENOTYPE; PRIORITY JOURNAL; REPRODUCIBILITY; SAMPLE; SIBLING; SYMPTOM; TANDEM MASS SPECTROMETRY;

ACYL COENZYME A; ACYL-COA DEHYDROGENASE; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; FERROUS COMPOUNDS; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; LYMPHOCYTES; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 23644437131     PISSN: 15700232     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jchromb.2005.06.043     Document Type: Article

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