Ocular findings in Colombian patients affected with Fabry disease Manifestaciones oculares de enfermedad de Fabry en pacientes colombianos Ocular findings in Fabry disease

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

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Detalles Bibliográficos
Autores Principales: Rothstein K., Gálvez J.M., Gutiérrez Á.M., Rico L., Criollo E., de-la-Torre, Alejandra
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Instituto Nacional de Salud 2019
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/23548
https://doi.org/10.7705/biomedica.v39i3.3841