First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved]

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland [version 2; peer review: 2 approved]

Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-galactosidase A. This enzyme deficiency leads to accumulation of globotriaosylceramide and globotriaosylsphingosine in plasma and in different cells thro...

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Autores principales: Michał Nowicki, Monika Komar, Mariusz Kusztal, Katarzyna Mizia-Stec, Tomasz Liberek, Jolanta Małyszko, Katarzyna Muras-Szwedziak, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek
Formato: article
Lenguaje:EN
Publicado: F1000 Research Ltd 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/8f9bce18977c489b93edd6aaf63201e9
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