Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years’ (2001–2020) experience in cascade genetic screening at t...

Descripción completa

Detalles Bibliográficos
Autores principales: Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F., Wibrand, Flemming, Sorensen, Soren S., Lund, Allan M., Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D. W., Oturai, Peter, Larsen, Vibeke A., de Abreu, Vitor Hugo Fraga, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668118/
https://www.ncbi.nlm.nih.gov/pubmed/36383556
http://dx.doi.org/10.1371/journal.pone.0277767

Ejemplares similares

Ejemplares similares