Complementation Analysis of Fibroblasts from Peroxisomal Fatty Acid Oxidation Deficient Patients Shows High Frequency of Bifunctional Enzyme Deficiency Plus Intragenic Complementation: Unequivocal Evidence for Differential Defects in the Same Enzyme Protein
Authors:
- R.J.A. WandersRWR.J.A. Wanders
- 1 June 1997
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 235 (1) , 176-179
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Phytanoyl-CoA Hydroxylase Is Present in Human Liver, Located in Peroxisomes, and Deficient in Zellweger Syndrome: Direct, Unequivocal Evidence for the New, Revised Pathway of Phytanic Acid α-Oxidation in HumansBiochemical and Biophysical Research Communications, 1996
- Peroxisomal Disorders: A ReviewJournal of Neuropathology & Experimental Neurology, 1995
- Measurement of peroxisomal fatty acid β‐oxidation in cultured human skin fibroblastsJournal of Inherited Metabolic Disease, 1995
- A Sensitive Assay of Acyl-Coenzyme A Oxidase by Coupling with β-Oxidation Multienzyme ComplexAnalytical Biochemistry, 1994
- Peroxisomal Lipid MetabolismAnnual Review of Nutrition, 1994
- Postnatal diagnosis of peroxisomal disorders: A biochemical approachBiochimie, 1993
- BIOCHEMISTRY OF PEROXISOMESAnnual Review of Biochemistry, 1992
- Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis—A Complementation Study Involving Cell Lines from 19 PatientsPediatric Research, 1989
- Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.Journal of Clinical Investigation, 1988
- Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal SyndromeScience, 1973