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Article

X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds.

American journal of medical genetics - 13 Apr 1998

Ruiz M, Coll M J, Pàmpols T, Girós M

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal beta-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), adolescent cerebral (AdolCALD), adult cerebral (ACALD), adrenomyeloneuropathy (AMN), Addison-only (AO), and presymptomatic (PALD). The distribution of phenotypes varies...

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PMID: 9556303
DOI: 10.1002/(sici)1096-8628(19980413)76:5<424::aid-ajmg11>3.0.co;2-o

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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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