Article
Peroxisomal disorders: a review.
Journal of inherited metabolic disease - 1 Jan 1994
Fournier B, Smeitink J A, Dorland L, Berger R, Saudubray J M, Poll-The B T
Abstract excerpt
Until recently peroxisomal disorders were considered to be extremely rare and the diagnostic procedures available for postanatal and prenatal diagnosis were not widely known. At present, 17 human disorders are linked to peroxisomal dysfunction. The clinical, biochemical and morphological peroxiso...
Topics
- Biological Transport
- Enzymes
- Genotype
- Humans
- Metabolism, Inborn Errors
- Microbodies
- Nervous System Diseases
- Phenotype
- Proteins