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Article

Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.

Journal of medical genetics - 1 Apr 1996

Steinberg S J, Fensom A H

Abstract excerpt

The generalised peroxisomal disorders (GPDs) Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD), and infantile Refsum's disease (IRD) are autosomal recessive disorders associated with a failure to assemble mature peroxisomes. We confirmed the diagnosis of a GPD in eight ZS and four IRD...

Topics

Catalase
Cells, Cultured
Fatty Acids
Fibroblasts
Genetic Complementation Test
Humans
Peroxisomal Disorders
Phenotype
Plasmalogens
Solubility

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8730284
DOI: 10.1136/jmg.33.4.295
PMCID: PMC1050578

Genes

GPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8730284-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder.PMID 8730284Read ↗

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

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.Semantic proximity Read ↗

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.Semantic proximity Read ↗

Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.Semantic proximity Read ↗

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.Semantic proximity Read ↗

Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.Semantic proximity Read ↗

[Clinical and molecular aspects of peroxisome-deficient disorders].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 ↗

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.Semantic proximity Read ↗

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders.Semantic proximity Read ↗

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.Semantic proximity Read ↗

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.Semantic proximity Read ↗

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