Article
The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.
Clinica chimica acta; international journal of clinical chemistry - 18 Feb 2012
Tai Chang-Long, Liu Mei-Ying, Yu Hsiao-Chi, Chiang Chiang-Chuan, Chiang Hung, Suen Jeng-Hung, Kao Shu-Min, Huang Yu-Hsiu, Wu Tina Jui-Ting, Yang Chia-Feng, Tsai Fang-Chih, Lin Ching-Yuang, Chang Jan-Gowth, Chen Hong-Duo, Niu Dau-Ming
Abstract excerpt
BACKGROUND: As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female carriers of Fabry disease may still develop vital organ damage causing severe morbidity and mortality. In the previous newborn screening, from 299,007 newborns, we identified a total of 20 different Fabry...
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