Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report

BACKGROUND: This is a case report of a patient with Anderson–Fabry disease (AFD) due to the D313Y variant on the a-galactosidase A (GLA) gene on migalastat treatment and severe chronic kidney disease referred to our unit to assess possible cardiac involvement. CASE SUMMARY: A 53-year-old man with ch...

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Detalles Bibliográficos
Autores principales: Bei, Evangelia, Antonopoulos, Alexios S, Tsivgoulis, Georgios, Vlachopoulos, Charalambos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187784/
https://www.ncbi.nlm.nih.gov/pubmed/37201153
http://dx.doi.org/10.1093/ehjcr/ytad224

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187784/
https://www.ncbi.nlm.nih.gov/pubmed/37201153
http://dx.doi.org/10.1093/ehjcr/ytad224

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