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Article

X-linked adrenoleukodystrophy caused by a novel mutation presenting with various phenotypes in a Taiwanese family.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2021

Chien Chia-Yin, Chang Kuo-Hsuan, Chen Chiung-Mei

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder that primarily affects the white matter of central nervous system and the adrenal cortex. It is caused by mutations in the adenosine triphosphate-binding cassette, subfamily D, member 1 (ABCD1) gene that results in elevated plasma levels of very long chain fatty acids (VLCFAs). The disease is characterized by an unpredictable variation in phenotypic...

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Identifiers

PMID: 33359056
DOI: 10.1016/j.cca.2020.12.017

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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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