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

• Principais autores: Hasani Hewavitharana (Autor), Eresha Jasinge (Autor), Hiranya Abeysekera (Autor), Jithangi Wanigasinghe (Autor)
• Formato: Livro
• Publicado em: BMC, 2020-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...