Case-finding in Fabry disease: experience from the North of England.

Abstract excerpt

The advent of effective therapy for Fabry disease (FD) creates two challenges: (1) how do we identify individuals with the condition early in its natural history, and (2) how many people have the condition and require expensive therapy? Between 1981 and 2011, 17 new FD families were referred to the Northern Genetics Service in the North of England, the majority between 2005 and 2001. Since 2009 we have employed...

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