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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2017
Low frequency of Fabry disease in patients with common heart diseaseRaphael Schiffmann, Caren Swift, Nathan McNeill, et al.
Molecular Genetics and Metabolism|August 19, 2008
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cellsJin-Song Shen, Xing-Li Meng, David F Moore, et al.
Plos One|December 18, 2009
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disordersLaetitia Horzinski, Aurélia Huyghe, Marie-Céleste Cardoso, et al.
JIMD Reports|November 6, 2023
Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry diseasePaulina Dabrowska-Schlepp, Andreas Busch, Jin-Song Shen, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|July 31, 2018
Cognitive and Behavioral Consequences of Pediatric Delirium: A Pilot StudyJochen Meyburg, Markus Ries, Matthias Zielonka, et al.
American Journal of Medical Genetics. Part A|June 18, 2025
Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A-Related Neurodevelopmental Disorder Spectrum: A Case ReportSebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, et al.
Blood Cells, Molecules & Diseases|June 18, 2002
Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapyRaphael Schiffmann, Henry Mankin, James M Dambrosia, et al.
The Journal of Biological Chemistry|November 30, 2011
Early alterations of brain cellular energy homeostasis in Huntington disease modelsFanny Mochel, Brandon Durant, Xingli Meng, et al.
Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
BMC Medical Informatics and Decision Making|December 23, 2015
Analysis and classification of oncology activities on the way to workflow based single source documentation in clinical information systemsStefan Wagner, Matthias W Beckmann, Bernd Wullich, et al.
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