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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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Detalhes bibliográficos
Publicado no:Eur Heart J Case Rep
Main Authors: McConnell, Eliza Jeanette, Every, James, Tchan, Michel, Kozor, Rebecca
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6426117/
https://ncbi.nlm.nih.gov/pubmed/31020198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ehjcr/yty122
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