Author:
Kuchar Ladislav,Berna Linda,Poupetova Helena,Ledvinova Jana,Ruzicka Petr,Dostalova Gabriela,Reichmannova Stella,Asfaw Befekadu,Linhart Ales,Sikora Jakub
Funder
lékařská fakulta Univerzity Karlovy
European Union
Univerzita Karlova v Praze
Ministry of Health of the Czech Republic
Reference35 articles.
1. Fabry disease revisited: Management and treatment recommendations for adult patients;Ortiz;Mol. Genet. Metab.,2018
2. O. Lidove, R. Jaussaud, S. Aractingi, Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy, in: A. Mehta, M. Beck, G. Sunder-Plassmann (Eds.), Fabry Disease: Perspectives from 5 Years of FOS, Oxford, 2006.
3. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population;Dobrovolny;J. Mol. Med. (berl),2005
4. National Stroke Research Network, C.S. Czech Neurological Society, Nationwide screening for Fabry disease in unselected stroke patients;Tomek;PLoS One,2021
5. An expert consensus on the recommendations for the use of biomarkers in Fabry disease;Burlina;Mol. Genet. Metab.,2023