A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns

PLoS ONE

Volumn 4, Issue 7, 2009, Pages

  ter Veld, Frank ^a   Mueller, Martina ^a   Kramer, Simone ^a   Haussmann, Ulrike ^a   Herebian, Diran ^a   Mayatepek, Ertan ^a   Laryea, Maurice D ^a   Primassin, Sonja ^a   Spiekerkoetter, Ute ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; ENOYL COENZYME A HYDRATASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME SYNTHESIS; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; LIQUID CHROMATOGRAPHY; LYMPHOCYTE; NEWBORN; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; HETEROZYGOTE DETECTION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; METHODOLOGY; MUTATION; VALIDATION STUDY;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASE, LONG-CHAIN; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MUTATION; TANDEM MASS SPECTROMETRY;

EID: 68149136714     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0006449     Document Type: Article

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