Article
Phenotypic variability (heterogeneity) of peroxisomal disorders.
Advances in experimental medicine and biology - 1 Jan 2003
Mandel Hanna, Korman Stanley H
Abstract excerpt
Peroxisomes perform a multitude of biosynthetic and catabolic functions, many of which are related to lipid metabolism. Peroxisomal disorders result either from deficiency of a single peroxisomal enzyme or protein, or from a defect in the complex mechanism of peroxisomal biogenesis, resulting in deficiency of several or multiple peroxisomal functions. These can be assessed by a battery of biochemical assays,...
Topics
- Chondrodysplasia Punctata, Rhizomelic
- Fatty Acids
- Humans
- Oxidation-Reduction
- Peroxisomal Disorders
- Phenotype
- Plasmalogens
- Zellweger Syndrome