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Article

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Neurology - 10 Feb 2004

Barth P G, Majoie C B L M, Gootjes J, Wanders R J A, Waterham H R, van der Knaap M S, de Klerk J B C, Smeitink J, Poll-The B T

Abstract excerpt

OBJECTIVE: To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS). METHODS: The authors studied MR images of 25 patients surviving the first year. Neuroimages were compared to neurologic profiles, PBD-ZeS specific compound developmental scores, and two common PEX1 mutations. RESULTS: Three groups are defined based on normal...

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Source

Identifiers

PMID: 14872027
DOI: 10.1212/01.wnl.0000106943.40848.03

Genes

PEX1

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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.

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