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[Clinical features and genotype-phenotype studies of 89 Chinese patients with X-linked adrenoleukodystrophy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Mar 2007

Ping Li-li, Bao Xin-hua, Wang Ai-hua, Pan Hong, Wu Ye, Xiong Hui, Jiang Yu-wu, Qin Jiong, Wu Xi-ru

Abstract excerpt

OBJECTIVE: X-linked adrenoleukodystrophy (X-ALD) is the most common inherited disorder of peroxisomal metabolism which is characterized by demyelination of central nervous system, impaired adrenal cortex and abnormal accumulation of very long chain fatty acids in body fluid and tissues. In this study, the clinical features and the genotype-phenotype relationship were investigated so as to help early diagnosis....

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PMID: 17504626

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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