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Article

X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.

Biochimica et biophysica acta - 1 Dec 2006

Berger Johannes, Gärtner Jutta

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a clinically heterogeneous disorder ranging from the severe childhood cerebral form to asymptomatic persons. The overall incidence is 1:16,800 including hemizygotes as well as heterozygotes. The principal molecular defect is due to inborn mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALDP is involved...

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Source

Identifiers

PMID: 16949688
DOI: 10.1016/j.bbamcr.2006.07.010

Genes

ABCD1

Provenance

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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