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...

Full description

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)