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The arrival of enzyme replacement therapy has been a great stimulus for research into Fabry and Gaucher disease, a lysomal storage disorder (a type of metabolic disease). Patients become ill as a result of a hereditary abnormality in the enzymes necessary for the degradation of complex molecules. Bouwien Smid investigates the variable phenotype of Fabry disease (FD) and aims to improve the diagnostic process of patients with an uncertain diagnosis of FD.

Event details of Diagnostic dilemmas in Fabry and Gaucher disease
Date 11 March 2015
Time 14:00 -15:00
Location Agnietenkapel

B.E. Smid, Diagnostic and Therapeutic Dilemmas in Fabry and Gaucher Disease.


Prof. C.E.M. Hollak


Dr G.E. Linthorst


Oudezijds Voorburgwal 229 - 231
1012 EZ Amsterdam


This event is open to the public.