Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening

This publication has 13 references indexed in Scilit:

• Expanding Newborn Screening
  Published by American Medical Association (AMA) ,2003
• Very High Compliance in an Expanded MS-MS-Based Newborn Screening Program despite Written Parental Consent
  Preventive Medicine, 2002
• Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
  The Lancet, 2001
• Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified 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*
  American Journal of Human Genetics, 2001
• Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
  Archives of Disease in Childhood, 1999
• Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
  Archives of Disease in Childhood, 1998
• Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.
  Archives of Disease in Childhood, 1994
• Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
  The Journal of Pediatrics, 1994
• Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1991
• Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
  The Lancet, 1991