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Article

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

Journal of inherited metabolic disease - 1 Feb 2009

Steinberg S J, Snowden A, Braverman N E, Chen L, Watkins P A, Clayton P T, Setchell K D R, Heubi J E, Raymond G V, Moser A B, Moser H W

Abstract excerpt

Zellweger spectrum disorders (ZSD) are diagnosed by biochemical assay in blood, urine and cultured fibroblasts and PEX gene mutation identification. In most cases studies in fibroblasts corroborate results obtained in body fluids. In 1996 Clayton and colleagues described a 10-year old girl with evidence of a peroxisome disorder, based on elevated bile acid metabolites and phytanate. At the time it was not...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19127411
DOI: 10.1007/s10545-008-0969-8

Genes

PEX10

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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A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.PMID 19127411Read ↗

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Semantic proximity Read ↗

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.Semantic proximity Read ↗

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Semantic proximity Read ↗

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.Semantic proximity Read ↗

Zellweger spectrum disorders: clinical overview and management approach.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 ↗

Identification of a novel PEX14 mutation in Zellweger syndrome.Semantic proximity Read ↗

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.Semantic proximity Read ↗

Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.Semantic proximity Read ↗

Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.Semantic proximity Read ↗

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.Semantic proximity Read ↗

Mutations in PEX10 are a cause of autosomal recessive ataxia.Semantic proximity Read ↗

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