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Article

Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.

Clinica chimica acta; international journal of clinical chemistry - 12 May 2011

Lan Fenghua, Wang Zhihong, Xie Haihua, Huang Lianghu, Ke Longfeng, Yang Bosheng, Zhu Zhongyong

Abstract excerpt

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by progressive demyelination of the nervous system, adrenocortical insufficiency and increase of very long chain fatty acids (VLCFAs) in the plasma and tissues. METHODS: A total of 131 individuals from 30 Chinese pedigrees were involved in this study, including 42 symptomatic patients, 44 female carriers, and 15...

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PMID: 21300044
DOI: 10.1016/j.cca.2011.01.036

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