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 Colom...
| Autores Principales: | , , , , , |
|---|---|
| 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 |