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:
- Tipo de recurso:
- Fecha de publicación:
- 2019
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/23548
- Acceso en línea:
- https://doi.org/10.7705/biomedica.v39i3.3841
https://repository.urosario.edu.co/handle/10336/23548
- Palabra clave:
- Alpha-Galactosidase
Corneal opacity
Crystalline
Fabry disease
Lens capsule
Lysosomal storage diseases
Retinal vessels
- Rights
- License
- Abierto (Texto Completo)