Reinvestigation of Peroxisomal 3-Ketoacyl-CoA Thiolase Deficiency: Identification of the True Defect at the Level of d-Bifunctional Protein
- 1 June 2002
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 70 (6) , 1589-1593
- https://doi.org/10.1086/340970
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseasesBiochemical Society Transactions, 2001
- Further insights into peroxisomal lipid breakdown via α- and β-oxidationBiochemical Society Transactions, 2001
- Further insights into peroxisomal lipid breakdown via α- and β-oxidationBiochemical Society Transactions, 2001
- Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseasesBiochemical Society Transactions, 2001
- Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyNature Genetics, 2000
- Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of Its True Enzymatic and Molecular BasisAmerican Journal of Human Genetics, 1999
- d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal DisorderAmerican Journal of Human Genetics, 1997
- Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.Journal of Clinical Investigation, 1990
- Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activitiesThe Journal of Pediatrics, 1986
- Peroxisomal β-oxidation enzyme proteins in the Zellweger syndromeBiochemical and Biophysical Research Communications, 1985