Identification of a Novel Mutation in Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- 31 March 2000
- journal article
- case report
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 69 (3), 259-262
- https://doi.org/10.1006/mgme.2000.2978
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoAPediatric Research, 1997
- Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.Proceedings of the National Academy of Sciences, 1993
- Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency: The Prevalent Mutation G985 (K304E) Is Subject to a Strong Founder Effect from Northwestern EuropeHuman Heredity, 1993
- Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase geneBiochemistry, 1992
- Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) geneHuman Mutation, 1992
- Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency and Sudden Infant DeathNew England Journal of Medicine, 1991
- Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coliHuman Genetics, 1991
- Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyBiochemical and Biophysical Research Communications, 1990
- Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiencyThe Lancet, 1990
- Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromesThe Journal of Pediatrics, 1986