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Article

Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleukodystrophy in The Netherlands: a survey of 30 kindreds.

Neurology - 1 Dec 1994

van Geel B M, Assies J, Weverling G J, Barth P G

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal beta-oxidation associated with accumulation of saturated very long-chain fatty acids, which results in central and peripheral demyelination and in impaired function of adrenal cortex and testes. The phenotypic expression is highly variable, childhood cerebral ALD (CCALD) and adrenomyeloneuropathy (AMN) being the main variants. We...

Topics

Adolescent
Adrenoleukodystrophy
Adult
Age of Onset
Brain Diseases
Child
Humans
Male
Middle Aged
Netherlands
Phenotype
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7991123
DOI: 10.1212/wnl.44.12.2343

Genes

AMN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7991123-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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