Metabolic and molecular basis of peroxisomal disorders: A review
- 14 April 2004
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 126A (4) , 355-375
- https://doi.org/10.1002/ajmg.a.20661
Abstract
The group of peroxisomal disorders now includes 17 different disorders with Zellweger syndrome as prototype. Thanks to the explosion of new information about the functions and biogenesis of peroxisomes, the metabolic and molecular basis of most of the peroxisomal disorders has been resolved. A review of peroxisomal disorders is provided in this paper.Keywords
This publication has 92 references indexed in Scilit:
- Immunological analyses of alkyl-dihydroxyacetonephosphate synthase in human peroxisomal disordersEuropean Journal of Cell Biology, 1999
- Abnormal myelination in peroxisomal isolated dihydroxyacetone-phosphate acyltransferase deficiencyPediatric Neurology, 1997
- Major hyperpipecolataemia in a normal adultJournal of Inherited Metabolic Disease, 1996
- Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groupsThe Journal of Pediatrics, 1995
- L-Pipecolate oxidase: A distinct peroxisomal enzyme in manBiochemical and Biophysical Research Communications, 1989
- Pseudo-Zellweger syndrome: Deficiencies in several peroxisomal oxidative activitiesThe Journal of Pediatrics, 1986
- Age‐related differences in plasmalogen content of erythrocytes from patients with the cerebro‐hepato‐renal (Zellweger) syndrome: Implications for postnatal detection of the diseaseJournal of Inherited Metabolic Disease, 1985
- Rhizomelic Chondrodysplasia Punctata: Another Peroxisomal DisorderNew England Journal of Medicine, 1985
- Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liverJournal of Inherited Metabolic Disease, 1982
- Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblingsThe Journal of Pediatrics, 1981