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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2022
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| Materias: | |
| 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 |