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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Autors principals:	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:	Artigo
Idioma:	Inglês
Publicat:	Oxford University Press 2021-12-01
Col·lecció:	ESC Heart Failure
Matèries:	Fabry disease GLA gene Left ventricular hypertrophy Renal insufficiency
Accés en línia:	https://doi.org/10.1002/ehf2.13638
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