Chargement en cours...
A novel mutation and in vivo confocal microscopic findings in Fabry disease
Fabry disease is a hereditary, X-linked lysosomal storage disease due to a deficiency of the alpha galactosidase A enzyme. Globotriaosylceramide accumulates in tissues and results in multiorgan dysfunction. The most common ocular finding in Fabry disease is cornea verticillata. Increase in conjuncti...
Enregistré dans:
| Publié dans: | Saudi J Ophthalmol |
|---|---|
| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier
2017
|
| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5352937/ https://ncbi.nlm.nih.gov/pubmed/28337063 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.sjopt.2016.12.005 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|