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Article

Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.

Pediatric neurology - 1 Mar 2013

Horn Morten A, Retterstøl Lars, Abdelnoor Michael, Skjeldal Ola H, Tallaksen Chantal M E

Abstract excerpt

To investigate X-linked adrenoleukodystrophy in an unselected population, we performed a population based, cross-sectional prevalence study, supplemented by a retrospective study of deceased subjects. Sixty-three subjects (34 males, 29 females) belonging to 22 kindreds were included. Thirty-nine subjects (13 males, 26 females) were alive, and 24 (21 males, 3 females) were deceased on the prevalence day. The point...

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Source

Identifiers

PMID: 23419472
DOI: 10.1016/j.pediatrneurol.2012.12.007

Genes

ABCD1

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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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