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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Detalles Bibliográficos
Autores principales: Reková, Petra, Dostálová, Gabriela, Kemlink, David, Paulasová Schwabová, Jaroslava, Dubská, Zora, Vaneckova, Manuela, Mašek, Martin, Kodet, Ondřej, Poupětová, Helena, Mazurová, Stella, Rajdova, Aneta, Vlckova, Eva, Táboříková, Alena, Fafejtová, Štěpánka, Nevsimalova, Miroslava, Linhart, Aleš, Tomek, Aleš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396867/
https://www.ncbi.nlm.nih.gov/pubmed/34441839
http://dx.doi.org/10.3390/jcm10163543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396867/
https://www.ncbi.nlm.nih.gov/pubmed/34441839
http://dx.doi.org/10.3390/jcm10163543

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