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Article

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

PloS one - 1 Jan 2022

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, Fraga de Abreu Vitor Hugo, Enevoldsen Lotte Hahn, Kristensen Tatiana, Svenstrup Kirsten, Bille Margrethe Bastholm, Arif Farah, Mogensen Mette, Klokker Mads, Backer Vibeke, Kistorp Caroline, Feldt-Rasmussen Ulla

Abstract excerpt

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 the Danish National Fabry Disease Center. The Danish Fabry cohort consisted of 26 families, 18 index patients (9...

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PMID: 36383556
DOI: 10.1371/journal.pone.0277767
PMCID: PMC9668118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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