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

Autor: Effraimidis G; 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., Rasmussen ÅK; Department of Endocrinology and Metabolism, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Dunoe M; Department of Clinical Genetics, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Hasholt LF; Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Wibrand F; Department of Clinical Genetics, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Sorensen SS; Department of Nephrology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Clinical Sciences, Copenhagen University, Copenhagen, Denmark., Lund AM; 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., Kober L; 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., Bundgaard H; 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., Yazdanfard PDW; Department of Endocrinology and Metabolism, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Oturai P; 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., Larsen VA; Department of Radiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Fraga de Abreu VH; Department of Radiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Enevoldsen LH; Department of Clinical Physiology and Nuclear Medicine, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Kristensen T; Department of Clinical Physiology and Nuclear Medicine, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Svenstrup K; Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Bille MB; Department of Clinical Neurophysiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Arif F; Department of Ophthalmology, Rigshospitalet-Glostrup (Copenhagen University Hospital), Copenhagen, Denmark., Mogensen M; Department of Dermatology, Bispebjerg Hospital, Copenhagen University Hospitals, Copenhagen, Denmark., Klokker M; Department of Otorhinolaryngology and Head and Neck Surgery and Audiology, Rigshospitalet (Copenhagen University Hospital), Copenhagen, Denmark., Backer V; 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., Kistorp C; 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., Feldt-Rasmussen U; 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.

Publikováno v: PloS one [PLoS One] 2022 Nov 16; Vol. 17 (11), pp. e0277767. Date of Electronic Publication: 2022 Nov 16 (Print Publication: 2022).

Alpha1-antitrypsin deficiency in Danish children – a nationwide cohort study.

Autor: Nyrann, S., Winther, C. L., Nielsen, R. G., Johansen, K. B., Dunoe, M., Kjaer, T. W., Christensen, V. B.

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition; 2022 Supplement, Vol. 74, p851-852, 2p

Increased recurrence risk in congenital disorders of glycosylation type la (CDG-la) due to a transmission ratio distortion.

Autor: Schollen, E., Kjaergaard, S., Martinsson, T., Vuillaumier-Barrot, S., Dunoe, M., Keldermans, L., Seta, N., Matthijs, G.

Publikováno v: Journal of Medical Genetics; Nov2004, Vol. 41 Issue 11, p877-880, 4p

P3.60 Pompe disease in persons with unclassified Limb-girdle muscular dystrophy

Autor: Husu, E.H., Preisler, N., Madsen, K., Hansen, R., Lukacs, Z., Laub, M., Dunoe, M., Andersen, H., Vinge, L., Vissing, J.

Publikováno v: In Neuromuscular Disorders October 2011 21(9-10):700-701

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