Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

doi:10.1016/j.cca.2013.09.008

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Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

Clinica chimica acta; international journal of clinical chemistry - 15 Nov 2013

Liao Hsuan-Chieh, Huang Yu-Hsiu, Chen Yann-Jang, Kao Shu-Min, Lin Hsiang-Yu, Huang Chun-Kai, Liu Hao-Chuan, Hsu Ting-Rong, Lin Shuan-Pei, Yang Chia-Feng, Fann Cathy S J, Chiu Pao-Chin, Hsieh Kai-Sheng, Fu Yun-Ching, Ke Yu-Yuan, Lin Ching-Yuang, Tsai Fuu-Jen, Wang Chung-Hsing, Chao Mei-Chyn, Yu Wen-Chung, Chiang Chuan-Chi, Niu Dau-Ming

Abstract excerpt

BACKGROUND: Previous studies revealed a high incidence of late-onset Fabry disease mutation, IVS4+919G>A, in Taiwan. However, the natural course is largely unclear and suitable biomarkers for monitoring disease progress are unavailable. METHODS AND RESULTS: Patients carrying IVS4+919G>A or classical Fabry mutations were enrolled in this study. The subjects ranged from newborn to eighty year old adults. Plasma...

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PMID: 24055776
DOI: 10.1016/j.cca.2013.09.008

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