Isolated Isobutyryl-CoA Dehydrogenase Deficiency: An Unrecognized Defect in Human Valine Metabolism
- 31 December 1998
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 65 (4) , 264-271
- https://doi.org/10.1006/mgme.1998.2758
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- A Novel Mutation Identified in Carnitine Palmitoyltransferase II DeficiencyMolecular Genetics and Metabolism, 1998
- Cloning of a cDNA for Short/Branched Chain Acyl-Coenzyme A Dehydrogenase from Rat and Characterization of Its Tissue Expression and Substrate SpecificityArchives of Biochemistry and Biophysics, 1996
- Isolation and Expression of a cDNA Encoding the Precursor for a Novel Member (ACADSB) of the Acyl-CoA Dehydrogenase Gene FamilyGenomics, 1994
- Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: An inborn error of β‐alanine,l‐valine andl‐alloisoleucine metabolism?Journal of Inherited Metabolic Disease, 1993
- New clinical phenotype of branched-chain acyl-CoA oxidation defectThe Lancet, 1991
- Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase.Published by Elsevier ,1983
- Jamaican Vomiting SicknessNew England Journal of Medicine, 1976
- Glutaric aciduria type II: Report on a previously undescribed metabolic disorderClinica Chimica Acta; International Journal of Clinical Chemistry, 1976
- Isovaleric acidemia: a new genetic defect of leucine metabolism.Proceedings of the National Academy of Sciences, 1966