Ocular findings in Fabry disease in Colombian patients

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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Bibliographic Details
Main Authors: Katherine Rothstein, Jubby M. Gálvez, Ángela M. Gutiérrez, Laura Rico, Eveling Criollo, Alejandra de-la-Torre
Format: Article
Language:English
Published: Instituto Nacional de Salud 2019-09-01
Series:Biomédica: revista del Instituto Nacional de Salud
Subjects:
Fabry disease
alpha-Galactosidase
lysosomal storage diseases
corneal opacity
retinal vessels
lens capsule, crystalline
Online Access:https://revistabiomedica.org/index.php/biomedica/article/view/3841

Internet

https://revistabiomedica.org/index.php/biomedica/article/view/3841

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