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...
Tallennettuna:
| Päätekijät: | , , , , , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Oxford University Press
2021-12-01
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| Sarja: | ESC Heart Failure |
| Aiheet: | |
| Linkit: | https://doi.org/10.1002/ehf2.13638 |
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