Article
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
Orphanet journal of rare diseases - 22 Jul 2014
Liu Hao-Chuan, Lin Hsiang-Yu, Yang Chia-Feng, Liao Hsuan-Chieh, Hsu Ting-Rong, Lo Chiao-Wei, Chang Fu-Pang, Huang Chun-Kai, Lu Yung-Hsiu, Lin Shuan-Pei, Yu Wen-Chung, Niu Dau-Ming
Abstract excerpt
BACKGROUND: In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment outcomes and suitable biomarkers for monitoring the therapeutic outcomes of these patients are largely unknown. METHODS: Fabry disease (FD) patients who had received enzyme replacement therapy...
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