Article
First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland
2021-10-22
Abstract excerpt
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 throughout the body, causing major cardiovascular, renal, and nervous system complications. Until 2018, reimbursed enzyme...
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Identifiers and source
- Literature Corpus work
- 1fdd4ca9-087b-5732-8b1f-5321a17134e1
- DOI
- 10.12688/f1000research.55313.2