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Journal of Medical Genetics|February 14, 2018
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort studyMaarten Arends, Marieke Biegstraaten, Christoph Wanner, et al.
Circulation. Cardiovascular Imaging|April 9, 2013
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mappingDaniel M Sado, Steven K White, Stefan K Piechnik, et al.
Molecular Genetics and Metabolism|August 30, 2017
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physiciansAtul Mehta, Nadia Belmatoug, Bruno Bembi, et al.
The Journal of Biological Chemistry|July 7, 2009
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher diseaseGustavo H B Maegawa, Michael B Tropak, Justin D Buttner, et al.
Angewandte Chemie (International Ed. in English)|July 21, 2022
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal ModelsAndrés G Santana, Kyle Robinson, Chelsea Vickers, et al.
American Journal of Hematology|June 23, 2021
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final resultsPramod K Mistry, Elena Lukina, Hadhami Ben Turkia, et al.
Heart (British Cardiac Society)|September 1, 2012
Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and diseaseDaniel M Sado, Andrew S Flett, Sanjay M Banypersad, et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance|December 6, 2014
Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonanceSilvia Pica, Daniel M Sado, Viviana Maestrini, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 11, 2012
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's diseaseRaquel Duran, Niccolo E Mencacci, Aikaterini V Angeli, et al.
The Journal of Biological Chemistry|July 23, 2013
Heparan sulfate proteoglycans containing a glypican 5 core and 2-O-sulfo-iduronic acid function as Sonic Hedgehog co-receptors to promote proliferationRochelle M Witt, Marie-Lyn Hecht, Maria F Pazyra-Murphy, et al.
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