Phenotypic and genotypic variability of generalized peroxisomal disorders

S Naidu; A E Moser; H W Moser

doi:10.1016/0887-8994(88)90017-3

Phenotypic and genotypic variability of generalized peroxisomal disorders

Pediatr Neurol. 1988 Jan-Feb;4(1):5-12. doi: 10.1016/0887-8994(88)90017-3.

Authors

S Naidu¹, A E Moser, H W Moser

Affiliation

¹ Kennedy Institute, Baltimore, Maryland 21205.

PMID: 3069099
DOI: 10.1016/0887-8994(88)90017-3

Abstract

This article classifies and describes the various entities that comprise the generalized peroxisomal disorder. The variability in both phenotype and genotype is stressed. A heretofore undescribed generalized peroxisomal disorder is reported.

Publication types

Case Reports
Review

MeSH terms

Adrenoleukodystrophy / genetics
Adrenoleukodystrophy / metabolism
Chondrodysplasia Punctata / genetics
Fatty Acids / metabolism
Female
Genotype
Humans
Infant
Microbodies* / metabolism
Phenotype
Zellweger Syndrome / genetics
Zellweger Syndrome / metabolism

Substances

Fatty Acids