First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland

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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Detalles Bibliográficos
Autores principales: Nowicki, Michał, Komar, Monika, Kusztal, Mariusz, Mizia-Stec, Katarzyna, Liberek, Tomasz, Małyszko, Jolanta, Muras-Szwedziak, Katarzyna, Pawlaczyk, Krzysztof, Podolec, Piotr, Sławek, Jarosław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561609/
https://www.ncbi.nlm.nih.gov/pubmed/34745562
http://dx.doi.org/10.12688/f1000research.55313.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561609/
https://www.ncbi.nlm.nih.gov/pubmed/34745562
http://dx.doi.org/10.12688/f1000research.55313.2

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