Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report

• Auteurs principaux: Hasani Hewavitharana (Auteur), Eresha Jasinge (Auteur), Hiranya Abeysekera (Auteur), Jithangi Wanigasinghe (Auteur)
• Format: Livre
• Publié: BMC, 2020-07-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance. Confirmation requires genetic analysis of Galac...