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Fabry disease

The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum

Laura van Dussen, Emilie V. Albers, Saskia N. van der Crabben, Ronald H. Lekanne Deprez, Astrid S. Plomp, Mirjam Langeveld

published 16 Sep 2026

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Volumetric MRI of dorsal root ganglia as a biomarker for disease progression and response to AAV treatment in a mouse model of Fabry disease

Fuqiang Zhao, Shipeng Yuan, Charalambos Kaittanis, Mugdha Deshpande, Abirami Kugadas, Katayoun Derakhchan, Wanida Ruangsiriluk, Rizwana Islam, Natalia Boukharov, Paul McQuade, Johannes Tauscher, Christopher T. Winkelmann, Talakad G. Lohith

published 24 Oct 2025

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Improving a data mining based diagnostic support tool for rare diseases on the example of M. Fabry: Gender differences need to be taken into account

Philipp Hahn, Werner Lechner, Rainer-Georg Siefen, Christina Lampe, Peter Nordbeck, Lorenz Grigull, Thomas Lücke

published 30 Jun 2025

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Automated extracellular volume fraction measurement for diagnosis and prognostication in patients with light-chain cardiac amyloidosis

In-Chang Hwang, Eun Ju Chun, Pan Ki Kim, Myeongju Kim, Jiesuck Park, Hong-Mi Choi, Yeonyee E. Yoon, Goo-Yeong Cho, Byoung Wook Choi

published 22 Jan 2025

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Exploring the diagnostic potential of miRNA signatures in the Fabry disease serum: A comparative study of automated and manual sample isolations

Josephine Y. Fang, Saravanan Ayyadurai, Alyssa F. Pybus, Hiroshi Sugimoto, Mark G. Qian

published 28 Oct 2024

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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, 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

published 16 Nov 2022

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Retinal biomarkers of Cerebral Small Vessel Disease: A systematic review

Elena Biffi, Zachary Turple, Jessica Chung, Alessandro Biffi

published 14 Apr 2022

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Nationwide screening for Fabry disease in unselected stroke patients

Aleš Tomek, Reková Petra, Jaroslava Paulasová Schwabová, Anna Olšerová, Miroslav Škorňa, Miroslava Nevšímalová, Libor Šimůnek, Roman Herzig, Štěpánka Fafejtová, Petr Mikulenka, Alena Táboříková, Jiří Neumann, Richard Brzezny, Helena Sobolová, Jan Bartoník, Daniel Václavík, Marta Vachová, Karel Bechyně, Hana Havlíková, Tomáš Prax, Daniel Šaňák, Irena Černíková, Iva Ondečková, Petr Procházka, Jan Rajner, Miroslav Škoda, Jan Novák, Ondřej Škoda, Michal Bar, Robert Mikulík, Gabriela Dostálová, Aleš Linhart, on behalf of the National Stroke Research Network, part of Czech Clinical Research Infrastructure Network (CZECRIN) and Czech Neurological Society, Cerebrovascular Section

published 14 Dec 2021

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Variable expression of eighteen common housekeeping genes in human non-cancerous kidney biopsies

Philipp Strauss, Håvard Mikkelsen, Jessica Furriol

published 09 Dec 2021

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The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey

Eugen Mengel, Jens Gaedeke, Holger Gothe, Simon Krupka, Anja Lachmann, Jörg Reinke, Christoph Ohlmeier

published 31 Dec 2020

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Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy

Chandu Sadasivan, Josie T. Y. Chow, Bun Sheng, David K. H. Chan, Yiting Fan, Paul C. L. Choi, Jeffrey K. T. Wong, Mabel M. B. Tong, Tsz-Ngai Chan, Erik Fung, Kevin K. H. Kam, Joseph Y. S. Chan, Wai-Kin Chi, D. Ian Paterson, Manohara Senaratne, Neil Brass, Gavin Y. Oudit, Alex P. W. Lee

published 28 Sep 2020

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FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis

Sven F. Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F. Hoffmann, Christian Staufner, Eugen Mengel, Markus Ries

published 08 Apr 2020

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Significant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment

Puriya Daniel Yazdanfard, Christoffer Valdorff Madsen, Lars Holme Nielsen, Åse Krogh Rasmussen, Jørgen Holm Petersen, Alka Seth, Søren Schwartz Sørensen, Lars Køber, Ulla Feldt-Rasmussen

published 06 Dec 2019

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