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

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 o...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8712914/
https://www.ncbi.nlm.nih.gov/pubmed/34704396
http://dx.doi.org/10.1002/ehf2.13638

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8712914/
https://www.ncbi.nlm.nih.gov/pubmed/34704396
http://dx.doi.org/10.1002/ehf2.13638

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