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Article

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.

PloS one - 1 Jan 2012

Amorosi Cyntia Anabel, Myskóva Helena, Monti Mariela Roxana, Argaraña Carlos Enrique, Morita Masashi, Kemp Stephan, Dodelson de Kremer Raquel, Dvoráková Lenka, Oller de Ramírez Ana María

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease associated with mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues, due to a defect in peroxisomal VLCFA β-oxidation. In the present study, we...

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PMID: 23300730
DOI: 10.1371/journal.pone.0052635
PMCID: PMC3534082

Genes

ABCD1

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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