Population Frequency of Undiagnosed Fabry Disease in the General Population

Abstract excerpt

Introduction Fabry disease is an X-linked disorder that results from pathogenic GLA variants and can now be treated. Most studies of its population frequency have examined only males or attendees at kidney failure or cardiac clinics. This study determined the prevalence of undiagnosed Fabry disease from predicted pathogenic GLA variants in the general population. Methods The Genome Aggregation Database (gnomAD)...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomics and Rare Diseases
• Share to Lysosomal Storage Disorders Research
• Share to Trypanosoma species research and implications