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Open Access
Peer-reviewed
Research Article
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
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Grigoris Effraimidis,
Roles Data curation, Formal analysis, Visualization, Writing – original draft
Affiliations Department of Endocrinology and Metabolism, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark, Department of Endocrinology and Metabolic Diseases, Larissa University Hospital, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece
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Åse Krogh Rasmussen,
Roles Writing – review & editing
Affiliation Department of Endocrinology and Metabolism, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Morten Dunoe,
Roles Writing – review & editing
Affiliation Department of Clinical Genetics, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Lis F. Hasholt,
Roles Writing – review & editing
Affiliation Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
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Flemming Wibrand,
Roles Writing – review & editing
Affiliation Department of Clinical Genetics, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Soren S. Sorensen,
Roles Writing – review & editing
Affiliations Department of Nephrology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark, Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark
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Allan M. Lund,
Roles Writing – review & editing
Affiliations Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark, Centre of Inherited Metabolic Diseases, Departments of Clinical Genetics and Pediatrics, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Lars Kober,
Roles Writing – review & editing
Affiliations Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark, Department of Cardiology, The Heart Center, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Henning Bundgaard,
Roles Writing – review & editing
Affiliations Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark, Department of Cardiology, The Heart Center, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Puriya D. W. Yazdanfard,
Roles Writing – review & editing
Affiliation Department of Endocrinology and Metabolism, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Peter Oturai,
Roles Writing – review & editing
Affiliations Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark, Department of Clinical Physiology and Nuclear Medicine, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Vibeke A. Larsen,
Roles Writing – review & editing
Affiliation Department of Radiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Vitor Hugo Fraga de Abreu,
Roles Writing – review & editing
Affiliation Department of Radiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Lotte Hahn Enevoldsen,
Roles Writing – review & editing
Affiliation Department of Clinical Physiology and Nuclear Medicine, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Tatiana Kristensen,
Roles Writing – review & editing
Affiliation Department of Clinical Physiology and Nuclear Medicine, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Kirsten Svenstrup,
Roles Writing – review & editing
Affiliation Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Margrethe Bastholm Bille,
Roles Writing – review & editing
Affiliation Department of Clinical Neurophysiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Farah Arif,
Roles Writing – review & editing
Affiliation Department of Ophthalmology, Rigshospitalet-Glostrup (Copenhagen University Hospital), Copenhagen, Denmark
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Mette Mogensen,
Roles Writing – review & editing
Affiliation Department of Dermatology, Bispebjerg Hospital, Copenhagen University Hospitals, Copenhagen, Denmark
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Mads Klokker,
Roles Writing – review & editing
Affiliation Department of Otorhinolaryngology and Head and Neck Surgery and Audiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Vibeke Backer,
Roles Writing – review & editing
Affiliations Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark, Department of Otorhinolaryngology and Head and Neck Surgery and Audiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark
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Caroline Kistorp,
Roles Writing – review & editing
Affiliations Department of Endocrinology and Metabolism, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark, Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark
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Ulla Feldt-Rasmussen
Roles Conceptualization, Funding acquisition, Project administration, Supervision, Writing – review & editing
* E-mail: ufeldt@rh.dk
Affiliations Department of Endocrinology and Metabolism, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark, Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark
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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
- 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
- Published: November 16, 2022
- https://doi.org/10.1371/journal.pone.0277767