Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder due to mutations in the gene encoding for alpha-galactosidase A, with subsequent accumulation of complex sphingolipids in multiple organs, including the heart. Female heterozygotes can develop cardiac involvement although this is us...

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Detalles Bibliográficos
Autores principales: McConnell, Eliza Jeanette, Every, James, Tchan, Michel, Kozor, Rebecca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426117/
https://www.ncbi.nlm.nih.gov/pubmed/31020198
http://dx.doi.org/10.1093/ehjcr/yty122

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426117/
https://www.ncbi.nlm.nih.gov/pubmed/31020198
http://dx.doi.org/10.1093/ehjcr/yty122

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