Article
Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.
ESC heart failure - 1 Dec 2021
Chen Xin, Li Hezhi, Liao Hongtao, Zhan Xianzhang, Zhong Zhian, Zhang Qianhuan, Liu Lie, Liang Yuanhong, Deng Hai, Fang Xianhong, Xue Yumei, Wu Shulin, Liu Yang
Abstract excerpt
AIMS: Fabry disease (FD) is an X-linked genetic disease caused by mutations in the GLA gene that leads to deficient activity of lysosomal enzymes, accumulation of globotriaosylceramide in multi-organ systems, and variant clinical manifestations. We aimed to detail the clinical and genetic spectrum of FD in Chinese families. METHODS AND RESULTS: Five male probands with unexplained left ventricular hypertrophy and...
Topics
- China
- Fabry Disease
- Female
- Genetic Testing
- Humans
- Male
- Mutation
- alpha-Galactosidase