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

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...

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Main Authors: Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, Lis F Hasholt, Flemming Wibrand, Soren S Sorensen, Allan M Lund, Lars Kober, Henning Bundgaard, Puriya D W Yazdanfard, Peter Oturai, Vibeke A Larsen, Vitor Hugo Fraga de Abreu, Lotte Hahn Enevoldsen, Tatiana Kristensen, Kirsten Svenstrup, Margrethe Bastholm Bille, Farah Arif, Mette Mogensen, Mads Klokker, Vibeke Backer, Caroline Kistorp, Ulla Feldt-Rasmussen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0277767

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https://doi.org/10.1371/journal.pone.0277767

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