Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group.

doi:10.1016/0925-4439(91)90041-7

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Article

Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group.

Biochimica et biophysica acta - 21 Oct 1991

Wiemer E A, Out M, Schelen A, Wanders R J, Schutgens R B, Van den Bosch H, Tager J M

Abstract excerpt

We have studied fibroblast cell lines derived from a control subject (cell line 85AD5035F) and three patients clinically described as having the Zellweger syndrome (cell line W78/515), the infantile form of Refsum disease (cell line BOV84AD) and hyperpipecolic acidaemia (cell line GM3605), respec...

Topics

Acetyl-CoA C-Acetyltransferase
Acyl-CoA Oxidase
Acyltransferases
Catalase
Cell Line
Electrophoresis, Polyacrylamide Gel
Fibroblasts
Humans
Immunoblotting
Kinetics
Microbodies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microscopy, Fluorescence

Oxidoreductases

Phenotype

Pipecolic Acids

Refsum Disease

Zellweger Syndrome

Source

Open in PubMed

Identifiers

PMID: 1718439
DOI: 10.1016/0925-4439(91)90041-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1718439-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group.PMID 1718439Read ↗

Update on genetic and molecular investigations of diseases with general impairment of peroxisomal functions.Semantic proximity Read ↗

Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.Semantic proximity Read ↗

Phenotypic variability (heterogeneity) of peroxisomal disorders.Semantic proximity Read ↗

Peroxisomal disorders: a review.Semantic proximity Read ↗

Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome.Semantic proximity Read ↗

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.Semantic proximity Read ↗

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