The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

Molecular Genetics and Metabolism

Volumn 78, Issue 4, 2003, Pages 239-246

  Nagan, Narasimhan ^a   Kruckeberg, Kent E ^a   Tauscher, Angela L ^a   Bailey, Karen Snow ^a   Rinaldo, Piero ^a   Matern, Dietrich ^a  

^a MAYO CLINIC   (United States)

Author keywords

ACADS; Acylcarnitine analysis; Butyrylcarnitine; Fatty acid oxidation; Melting curve analysis; Newborn screening; Short chain acyl CoA dehydrogenase deficiency; Tandem mass spectrometry

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; PEPTIDE;

ARTICLE; ASIAN; BLOOD SAMPLING; CONTROLLED STUDY; CORRELATION ANALYSIS; ETHNIC GROUP; FREQUENCY ANALYSIS; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; NEWBORN; POPULATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; UNITED STATES; WILD TYPE;

PRIACANTHUS HAMRUR;

EID: 0037389601     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00034-9     Document Type: Article

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