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Fabry disease

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

Valentina Citro, Jorge Peña-García, [ ... ], Giuseppina Andreotti

Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease

Christian Tanislav, Dursun Guenduez, [ ... ], Arndt Rolfs

Reduced Right Ventricular Native Myocardial T₁ in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls

Joseph J. Pagano, Kelvin Chow, [ ... ], Richard B. Thompson

One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease

Behzad Najafian, Camilla Tøndel, [ ... ], Michael Mauer

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

Bianca T. A. de Greef, Janneke G. J. Hoeijmakers, [ ... ], Monique M. Gerrits

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease

Hideaki Sueoka, Mikio Aoki, [ ... ], Hitoshi Sakuraba

Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up

Kirsten Korsholm, Ulla Feldt-Rasmussen, [ ... ], Ian Law

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

Laura L. Kilarski, Loes C. A. Rutten-Jacobs, [ ... ], UK Young Lacunar Stroke DNA Study

Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards’ Responses

Bärbel Kästner, Simone Behre, [ ... ], Markus Ries

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

David G. Warnock, Daniel G. Bichet, [ ... ], Franklin K. Johnson

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease

Hideaki Sueoka, Junji Ichihara, [ ... ], Hitoshi Sakuraba

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial

Frits A. Wijburg, Bernard Bénichou, [ ... ], Uma Ramaswami

Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

Susanne Pitz, Gisela Kalkum, [ ... ], Andreas Gal

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