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Article

The clinical spectrum of X-linked adrenoleukodystrophy: from Addison's-only in men to middle-age neurologic manifestations in women.

Hormones (Athens, Greece) - 1 Mar 2022

Fadiga Lúcia, Melo Miguel, Saraiva Joana, Paiva Isabel

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene which encodes for a peroxisomal very long-chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide range of phenotypes, from slowly progressive myelopathy to rapid demyelination of brain white matter (cerebral X-ALD-CALD). Adrenocortical insufficiency (AI) occurs mainly in the pediatric age group, and it can be the...

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PMID: 34652632
DOI: 10.1007/s42000-021-00325-y

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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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