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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 patients (GPD1 to GPD12) biochemically by measuring very long chain fatty acids, plasmalogen biosynthesis, and...

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Source

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Identifiers

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

Genes

GPD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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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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