Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry: Further assessment of performance and outcome is needed

British Medical Journal

Volumn 324, Issue 7328, 2002, Pages 4-5

  Leonard, J V ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

CLINICAL FEATURE; DIAGNOSTIC ERROR; EARLY DIAGNOSIS; EDITORIAL; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; MENTAL DEFICIENCY; NEWBORN SCREENING; PERFORMANCE; PHENYLKETONURIA; PREVALENCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; TANDEM MASS SPECTROMETRY;

ACYL-COA DEHYDROGENASE; FATTY ACID DESATURASES; GREAT BRITAIN; HUMANS; INFANT, NEWBORN; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; OUTCOME AND PROCESS ASSESSMENT (HEALTH CARE);

EID: 0037021832     PISSN: 09598146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (14)

1. Using tandem mass spectrometry for metabolic disease screening among newborns
2. Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system
3. Medium-chain-acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
4. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
5. Intercurrent illness in inborn errors of intermediary metabolism
6. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
7. Neonatal screening for inborn errors of metabolism: Cost, yield and outcome
8. Neonatal screening for inborn errors of metabolism: A systematic review
9. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identifed by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
10. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies
11. Screening for medium chain acyl-CoA dehydrogenase deficiency using etectrospray ionisation tandem mass spectrometry
12. Neonatal screening for MCAD deficiency: Support from a retospective study
13. Evaluating newborn screening programmes based on dried blood spots: Future challenges
14. Screening for medium chain acyl-VoA dehydrogenase deficiency has still not been evaluated