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Article

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

European journal of human genetics : EJHG - 1 Jun 2009

Krause Cindy, Rosewich Hendrik, Gärtner Jutta

Abstract excerpt

Zellweger syndrome spectrum (ZSS) comprises a clinically and genetically heterogeneous disease entity, which is caused by mutations in any of the 12 different human PEX genes leading to impaired biogenesis of the peroxisome. Patients potentially suffering from ZSS are diagnosed biochemically by measuring elevated levels of very long chain fatty acids, pristanic acid and phytanic acid in plasma and serum and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 19142205
DOI: 10.1038/ejhg.2008.252
PMCID: PMC2947092

Genes

PEX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Rational diagnostic strategy for Zellweger syndrome spectrum patients.PMID 19142205Read ↗

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Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.Semantic proximity Read ↗

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Zellweger spectrum disorders: clinical overview and management approach.Semantic proximity Read ↗

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

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

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