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

• Váldodahkkit: Hasani Hewavitharana (Dahkki), Eresha Jasinge (Dahkki), Hiranya Abeysekera (Dahkki), Jithangi Wanigasinghe (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2020-07-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...