Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: Results, outcome, and implications

Pediatrics

Volumn 111, Issue 6 I, 2003, Pages 1399-1406

  Schulze, Andreas ^a   Lindner, Martin ^a   Kohlmüller, Dirk ^a   Olgemöller, Katharina ^a   Mayatepek, Ertan ^a,b   Hoffmann, Georg F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

Electrospray ionization; Inborn errors; Mass; Mass screening; Metabolism; Neonatal screening; Outcome assessment; Preventive medicine; Spectrometry

Indexed keywords

ARTICLE; DISEASE CLASSIFICATION; GERMANY; HUMAN; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MASS SPECTROMETRY; METABOLIC DISORDER; NEWBORN; NEWBORN SCREENING; PREVENTIVE MEDICINE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; CLINICAL TRIAL; COHORT ANALYSIS; DECISION TREE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ELECTROSPRAY MASS SPECTROMETRY; ENZYMOLOGY; EVALUATION; EVIDENCE BASED MEDICINE; FOLLOW UP; INBORN ERROR OF METABOLISM; METABOLISM; METHODOLOGY; MORTALITY; MULTICENTER STUDY; PREDICTION AND FORECASTING; PREMATURITY; PROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; TREATMENT OUTCOME;

ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DESATURASE; ACYLCARNITINE; AMINO ACID; CARNITINE; DIAGNOSTIC AGENT; DRUG DERIVATIVE;

ACYL-COA DEHYDROGENASE; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS; CARNITINE; COHORT STUDIES; DECISION TREES; EVIDENCE-BASED MEDICINE; FATTY ACID DESATURASES; FOLLOW-UP STUDIES; GERMANY; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; INFANT, PREMATURE, DISEASES; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; PROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TREATMENT OUTCOME;

EID: 0037639877     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.111.6.1399     Document Type: Article

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