Ocular findings in Fabry disease in Colombian patients

Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Co...

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Detalles Bibliográficos
Autores principales: Rothstein, Katherine, Gálvez, Jubby M., Gutiérrez, Ángela M., Rico, Laura, Criollo, Eveling, de-la-Torre, Alejandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Nacional de Salud 2019
Materias:
Case Presentation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357367/
https://www.ncbi.nlm.nih.gov/pubmed/31584758
http://dx.doi.org/10.7705/biomedica.3841

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357367/
https://www.ncbi.nlm.nih.gov/pubmed/31584758
http://dx.doi.org/10.7705/biomedica.3841

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