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Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic

AIMS: Fabry disease (FD) is a rare X‐linked genetic disorder caused by α‐galactosidase A (AGALA) deficiency. Whereas ‘classic’ variant has multisystemic manifestation, the more recently described ‘later‐onset’ variant is characterized by predominant cardiac involvement that often mimics hypertrophic...

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Detalles Bibliográficos
Autores principales: Zemánek, David, Januška, Jaroslav, Honěk, Tomáš, Čurila, Karol, Kubánek, Miloš, Šindelářová, Štěpánka, Zahálková, Lucie, Klofáč, Petr, Laštůvková, Eliška, Lichnerová, Eva, Aiglová, Renata, Lhotský, Jan, Vondrák, Jiří, Dostálová, Gabriela, Táborský, Miloš, Kasper, David, Linhart, Aleš
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9773751/
https://www.ncbi.nlm.nih.gov/pubmed/36087038
http://dx.doi.org/10.1002/ehf2.14135

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