Fabry

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Fabry disease

Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).

Accelerate the identification of rare diseases

accelRare^® is a pre-diagnosis and differential diagnosis tool. Developed, tested and validated in collaboration with 67 European rare disease specialists across multiple disciplines.

Inside Global Fabry Academy (GFA) 2025

A heart for Fabry - Podcast

A podcast series designed by cardiologists, for cardiologists and other healthcare professionals.

Genetics Academy frist uw genetische kennis op

De inzet van genetische diagnostiek neemt de afgelopen jaren toe, van huisartsenpraktijk tot specialistische disciplines.