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Article

[Screening for carrier and prenatal diagnosis of X-linked adrenoleukodystrophy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 May 2005

Wang Ai-hua, Bao Xin-hua, Xiong Hui, Pan Hong, Wu Ye, Zhang Yue-hua, Shi Chun-yan, Qin Jiong, Wu Xi-ru

Abstract excerpt

OBJECTIVE: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by progressive demyelination of the central nervous system, adrenal cortex insufficiency and accumulation of saturated very long chain fatty acids (VLCFAs) in tissues and body fluids due to the impaired beta-oxidation in peroxisomes. X-ALD shows a wide range of phenotypic variation. Childhood cerebral form...

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Source

Identifiers

PMID: 15924749

Genes

ABCD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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