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

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

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, accumulation of globotriaosylceramide in multi‐organ systems, and variant clinical manifestations. We aimed to detail the clinical and genetic sp...

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Bibliographic Details
Main Authors: Xin Chen, Hezhi Li, Hongtao Liao, Xianzhang Zhan, Zhian Zhong, Qianhuan Zhang, Lie Liu, Yuanhong Liang, Hai Deng, Xianhong Fang, Yumei Xue, Shulin Wu, Yang Liu
Format: Article
Language:English
Published: Wiley 2021-12-01
Series:ESC Heart Failure
Subjects:
Fabry disease
GLA gene
Left ventricular hypertrophy
Renal insufficiency
Online Access:https://doi.org/10.1002/ehf2.13638

Internet

https://doi.org/10.1002/ehf2.13638

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