Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic

Fabry disease (FD) is a rare X-linked disorder of glycosphingolipid metabolism caused by pathogenic variants within the alpha-galactosidase A (GLA) gene, often leading to neurological manifestations including stroke. Multiple screening programs seeking GLA variants among stroke survivors lacked deta...

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Bibliographic Details
Main Authors: Petra Reková, Gabriela Dostálová, David Kemlink, Jaroslava Paulasová Schwabová, Zora Dubská, Manuela Vaneckova, Martin Mašek, Ondřej Kodet, Helena Poupětová, Stella Mazurová, Aneta Rajdova, Eva Vlckova, Alena Táboříková, Štěpánka Fafejtová, Miroslava Nevsimalova, Aleš Linhart, Aleš Tomek
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Journal of Clinical Medicine
Subjects:
Fabry disease
GLA gene variants
phenotype
stroke
screening programs
data sharing
Online Access:https://www.mdpi.com/2077-0383/10/16/3543

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https://www.mdpi.com/2077-0383/10/16/3543

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