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Article

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

American journal of medical genetics. Part A - 1 May 2004

Poll-The Bwee Tien, Gootjes Jeannette, Duran Marinus, De Klerk Johannis B C, Wenniger-Prick Liesbeth J Maillette de Buy, Admiraal Ronald J C, Waterham Hans R, Wanders Ronald J A, Barth Peter G

Abstract excerpt

The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). There is clinical, biochemical, and genetic overlap among the three phenotypes, also known as Zellweger sp...

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Source

Identifiers

PMID: 15098231
DOI: 10.1002/ajmg.a.20664

Genes

PEX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15098231-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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