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Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report

BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A. CASE SUMMARY: Herein, we analyzed a four-generation Chinese family. The proband is a 57-year-old woman who was diagnosed with left ventricular hypertrophy and atrial fi...

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Detalles Bibliográficos
Autores principales:	Fu, An-Yi, Jin, Qi-Zhi, Sun, Ya-Xun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790442/ https://www.ncbi.nlm.nih.gov/pubmed/35127921 http://dx.doi.org/10.12998/wjcc.v10.i3.1067

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