Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

Journal of Inherited Metabolic Disease

Volumn 41, Issue 3, 2018, Pages 415-424

  Körver Keularts, Irene M L W ^a   Wang, Ping ^a,b   Waterval, Huub W A H ^a   Kluijtmans, Leo A J ^c   Wevers, Ron A ^c   Langhans, Claus Dieter ^d   Scott, Camilla ^e   Habets, Daphna D J ^a   Bierau, Jörgen ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CARBOXYLIC ACID; NEUROTRANSMITTER; AMINO ACID; FATTY ACID;

AMINO ACID METABOLISM; ARTICLE; CALCULATION; CALIBRATION; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FATTY ACID METABOLISM; HUMAN; HYDROPHOBICITY; INBORN ERROR OF STEROID METABOLISM; INTERMETHOD COMPARISON; LIMIT OF DETECTION; LIMIT OF QUANTITATION; LINEAR SYSTEM; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; LYSINE METABOLISM; MAJOR CLINICAL STUDY; MASS FRAGMENTOGRAPHY; METABOLITE; PURINE METABOLISM; PYRIMIDINE METABOLISM; QUADRUPOLE MASS SPECTROMETRY; QUANTITATIVE ANALYSIS; SCORING SYSTEM; SCREENING TEST; TIME OF FLIGHT MASS SPECTROMETRY; TRYPTOPHAN METABOLISM; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; URINE SAMPLING; VALIDATION PROCESS; Z SCORE; CHEMICAL ANALYSIS; FEMALE; INBORN ERROR OF METABOLISM; LIQUID CHROMATOGRAPHY; MALE; MASS SCREENING; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TIME FACTOR; URINALYSIS; URINE; VALIDATION STUDY;

AMINO ACIDS; CHEMISTRY TECHNIQUES, ANALYTICAL; CHROMATOGRAPHY, LIQUID; FATTY ACIDS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; MALE; MASS SCREENING; METABOLISM, INBORN ERRORS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TIME FACTORS; URINALYSIS;

EID: 85041907991     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-017-0129-0     Document Type: Article

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