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.
1. Global Journal of Medical
and Clinical Case Reports
Peertechz Journals
2. Case Report
Angiokeratoma in Fabry Disease Diagnostic
but not Treatment Effectiveness Marker
Jelena Roganovic, Ingeborg Barisic, Nives Jonjic, Ksenija Fumic and Ana Dordevic
*Corresponding author: Jelena Roganovic, MD, PhD, Prof., Division of Hematology and
Oncology, Department of Pediatrics, University Children’s Hospital Rijeka, Istarska 43, HR –
51000 Rijeka, Croatia, Tel: ++38551659103; Fax: ++38551623126
Dates: Received: Received: 28 Septmebr, 2014; Accepted: 13 October, 2014; Published: 15
October, 2014
Citation: Roganovic J, Barisic I, Jonjic N, Fumic K, Dordevic A (2015) Angiokeratoma in
Fabry Disease: Diagnostic but not Treatment Effectiveness Marker. Global J Med Clin Case
Reports 2(1): 012-013.
3. 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.
4. Thank you
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