Fabry disease in W162C mutation: a case report of two patients and a review of literature

Fabry disease is a multisystemic disorder characterized by deposition of globotriaosylceramide (Gb3) and its deacylated form in multiple organs, sometimes localized in specific systems such as the nervous or c...

Source: BMC Neurology - April 5, 2024 Category: Neurology Authors: Alessandro Furia, Raffaello Ditaranto, Elena Biagini, Vanda Parisi, Alex Incensi, Sara Parisini, Rocco Liguori and Vincenzo Donadio Tags: Case Report Source Type: research