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Article

Zellweger spectrum disorders: clinical overview and management approach.

Orphanet journal of rare diseases - 1 Dec 2015

Klouwer Femke C C, Berendse Kevin, Ferdinandusse Sacha, Wanders Ronald J A, Engelen Marc, Poll-The Bwee Tien

Abstract excerpt

Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of...

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Identifiers

PMID: 26627182
DOI: 10.1186/s13023-015-0368-9
PMCID: PMC4666198

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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.

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