A new peroxisomal disorder: Di‐ and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl‐CoA oxidase deficiency
- 1 May 1990
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 13 (3), 363-366
- https://doi.org/10.1007/bf01799396
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
- The inborn errors of peroxisomal β‐oxidation: A reviewJournal of Inherited Metabolic Disease, 1989
- [Refsum's disease. Hereditary atactic polyneuritis].1989
- Peroxisomal disorders in neurologyJournal of the Neurological Sciences, 1988
- Bile acids in peroxisomal disordersEuropean Journal of Clinical Investigation, 1987
- Acyl-CoA: dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay methodBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1986
- The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblastsBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1985