Fabry disease

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, [ ... ], Talakad G. Lohith

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, [ ... ], Thomas Lücke

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

In-Chang Hwang, Eun Ju Chun, [ ... ], Byoung Wook Choi

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, [ ... ], Mark G. Qian

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

Grigoris Effraimidis, Åse Krogh Rasmussen, [ ... ], Ulla Feldt-Rasmussen

Retinal biomarkers of Cerebral Small Vessel Disease: A systematic review

Elena Biffi, Zachary Turple, Jessica Chung, Alessandro Biffi

Nationwide screening for Fabry disease in unselected stroke patients

Aleš Tomek, Reková Petra, [ ... ], on behalf of the National Stroke Research Network, part of Czech Clinical Research Infrastructure Network (CZECRIN) and Czech Neurological Society, Cerebrovascular Section

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

Philipp Strauss, Håvard Mikkelsen, Jessica Furriol

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

Eugen Mengel, Jens Gaedeke, [ ... ], Christoph Ohlmeier

Screening for Fabry Disease in patients with unexplained left ventricular hypertrophy

Chandu Sadasivan, Josie T. Y. Chow, [ ... ], Alex P. W. Lee

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

Sven F. Garbade, Matthias Zielonka, [ ... ], Markus Ries

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

Puriya Daniel Yazdanfard, Christoffer Valdorff Madsen, [ ... ], Ulla Feldt-Rasmussen

Interactions of pharmaceutical companies with world countries, cancers and rare diseases from Wikipedia network analysis

Guillaume Rollin, José Lages, Tatiana S. Serebriyskaya, Dima L. Shepelyansky

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