Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series

Chen, X; Li, H; Liao, H; Zhan, X; Zhong, Z; Zhang, Q; Liu, L; Liang, Y; Deng, H; Fang, X; Xue, Y; Wu, S; Liu, Y

Liu, Y (通讯作者),Guangdong Acad Med Sci, Guangdong Cardiovascular Inst, Guangdong Prov Peoples Hosp, 106 Zhongshan Rd, Guangzhou 510080, Peoples R China.

ESC HEART FAILURE, 2022; 8 (6): 5436

Abstract

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, accu......

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