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Article

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Neurology - 10 Dec 2002

Gootjes J, Mooijer P A W, Dekker C, Barth P G, Poll-The B T, Waterham H R, Wanders R J A

Abstract excerpt

OBJECTIVE: To identify prognostic markers reflecting the extent of peroxisome dysfunction in primary skin fibroblasts from patients with peroxisome biogenesis disorders (PBD). BACKGROUND: PBD are a genetically heterogeneous group of disorders due to defects in at least 11 distinct genes. Zellweger syndrome is the prototype of this group of disorders, with neonatal adrenoleukodystrophy and infantile Refsum disease...

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Identifiers

PMID: 12473763
DOI: 10.1212/01.wnl.0000036609.14203.70

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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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