A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by insufficient activity of α-galactosidase A (α-Gal A) encoded by GLA. The enzymatic defect causes the progressive accumulation of sphingolipids in various tissues and body fluids, causing systemic disorders. We report a rare famil...

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Detalles Bibliográficos
Autores principales: Hirose, Masanori, Okada, Sho, Kobayashi, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276250/
https://www.ncbi.nlm.nih.gov/pubmed/37332487
http://dx.doi.org/10.1016/j.ymgmr.2023.100982

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276250/
https://www.ncbi.nlm.nih.gov/pubmed/37332487
http://dx.doi.org/10.1016/j.ymgmr.2023.100982

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