Article
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
Clinical neurology and neurosurgery - 1 Jul 2013
De Brabander Isabel, Yperzeele Laetitia, Ceuterick-De Groote Chantal, Brouns Raf, Baker Robert, Belachew Shibeshih, Delbecq Jean, De Keulenaer Gilles, Dethy Sophie, Eyskens François, Fumal Arnaud, Hemelsoet Dimitri, Hughes Derralynn, Jeangette Sandrine, Nuytten Dirk, Redondo Patricia, Sadzot Bernard, Sindic Christian, Sheorajpanday Rishi, Thijs Vincent, Van Broeckhoven Christine, De Deyn Peter P
Abstract excerpt
OBJECTIVE: In the Belgian Fabry Study (BeFaS), the prevalence of Fabry disease was assessed in 1000 young patients presenting with stroke, unexplained white matter lesions or vertebrobasilar dolichoectasia. The results of the BeFaS suggested that Fabry disease may play a role in up to 1% of young...
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