Angiokeratoma in Fabry Disease: Diagnostic but not Treatment Effectiveness Marker
Journal: Global Journal of Medical and Clinical Case Reports (Vol.1, No. 2)Publication Date: 2014-11-10
Authors : Jelena Roganovic Ingeborg Barisic Nives Jonjic Ksenija Fumic Ana Dordevic;
Page : 035-036
Keywords : Fabry disease; Angiokeratoma; Child;
Abstract
Introduction: Fabry disease (FD) is a rare metabolic disorder that leads to severe morbidity and premature mortality as a result of cardiac, renal or cerebrovascular complications. Enzyme replacement therapy (ERT) has been shown to provide clinically important benefits, and treatment is likely to alter the natural history of FD.
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