Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

Lancet

Volumn 358, Issue 9287, 2001, Pages 1063-1064

  Pourfarzam, Morteza ^a   Morris, Andrew ^a   Appleton, Marie ^a   Craft, Alan ^a   Bartlett, Kim ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE;

ACCURACY; ANALYTIC METHOD; ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; HUMAN; HUMAN TISSUE; INCIDENCE; METABOLIC DISORDER; MORBIDITY; MORTALITY; NEWBORN; NEWBORN SCREENING; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; RECURRENT DISEASE; RETROSPECTIVE STUDY; SCHOOL CHILD; SCREENING TEST; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; UNITED KINGDOM;

EID: 0035968582     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(01)06199-2     Document Type: Article

References (5)

1. Regional variations in medium-chain acyl-CoA dehydrogenase deficiency
2. Outcome of medium-chain acyl-CoA dehydrogenase deficiency after diagnosis
3. Prospective surveillance study of medium-chain acyl-CoA dehydrogenase deficiency in the UK
4. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies
5. The mutational spectrum in the MCAD gene of newborns identified by prospective tandem MS screening for 'diagnostic' acylcarnitines in blood spots differs from that observed in clinically affected patients