Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects. [electronic resource]
- The Journal of clinical investigation Feb 1996
- 681-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-9738
10.1172/JCI118465 doi
3-Hydroxyacyl CoA Dehydrogenases--deficiency Australia--epidemiology Bile Acids and Salts--blood Cells, Cultured Enoyl-CoA Hydratase--deficiency Fatty Acids--blood Fibroblasts--metabolism Genetic Complementation Test Humans Hybrid Cells Isomerases Microbodies--chemistry Multienzyme Complexes--deficiency Oxidation-Reduction Peroxisomal Bifunctional Enzyme Peroxisomal Disorders--diagnosis Phytanic Acid--metabolism Prenatal Diagnosis Zellweger Syndrome--diagnosis