Article
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Genes - 9 Sept 2022
Moiseev Sergey, Tao Ekaterina, Moiseev Alexey, Bulanov Nikolay, Filatova Ekaterina, Fomin Victor, Germain Dominique P
Abstract excerpt
BACKGROUND: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body's cell types and fluids. Patients with rare genetic diseases and non-specific symptoms often experience substantial diagnostic delays, which can negatively impact the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.