Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment

Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inheritance, heterozygous females may also be affected....

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Detalles Bibliográficos
Autores principales: Jurickova, Katarina, Jungova, Petra, Petrovic, Robert, Mattosova, Slavomira, Hlavata, Tereza, Kostalova, Ludmila, Hlavata, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224707/
https://www.ncbi.nlm.nih.gov/pubmed/35743707
http://dx.doi.org/10.3390/jpm12060922

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224707/
https://www.ncbi.nlm.nih.gov/pubmed/35743707
http://dx.doi.org/10.3390/jpm12060922

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