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In lysosomal storage diseases such as Fabry disease, certain enzymes are either inadequately present or completely absent in the lysosomes, whereby continuous molecules accumulate in the cells and cause damage. Linda van der Tol seeks to improve the diagnosis of Fabry disease (FD) in order to support the diagnostic process in individuals with a genetic variant of unknown significance (GVUS) in the Galactosidase A (GLA) gene.

Event details of Improved diagnosis of Fabry disease
Date 17 April 2015
Time 10:00 -11:00
Location Agnietenkapel

L. van der Tol, Fabry or Not Fabry: From Genetics to Diagnosis.

Supervisor

Prof. C.E.M. Hollak

Co-supervisors

Dr G.E. Linthorst
Dr M. Biegstraaten

Agnietenkapel

Oudezijds Voorburgwal 229 - 231
1012 EZ Amsterdam

Entrance

This event is open to the public.