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Human Mutation|May 21, 2011
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseaseXiaoyang Wu, Evan Katz, Maria Cecilia Della Valle, et al.Archives of Dermatology|November 18, 2009
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephewStéphanie Christen-Zaech, Kyoko Imoto, Sikandar G Khan, et al.Catheterization and Cardiovascular Interventions : Official Journal of the Society for Cardiac Angiography & Interventions|December 2, 2017
Prognostic value of urinary 11-dehydro-thromboxane B2 for mortality: A cohort study of stable coronary artery disease patients treated with aspirinAnupama Vasudevan, Kristen M Tecson, Jeanna Bennett-Firmin, et al.Molecular Genetics and Metabolism Reports|October 3, 2022
Dysregulated DNA methylation in the pathogenesis of Fabry diseaseJin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, et al.Coronary Artery Disease|December 23, 2016
Residual thromboxane activity and oxidative stress: influence on mortality in patients with stable coronary artery diseaseAnupama Vasudevan, Teodoro Bottiglieri, Kristen M Tecson, et al.Optics Express|August 10, 2017
Enhancing the sensitivity of nano-FTIR spectroscopyPeter Hermann, Bernd Kästner, Arne Hoehl, et al.Journal of Inherited Metabolic Disease|August 28, 2015
Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry miceJin-Song Shen, Andreas Busch, Taniqua S Day, et al.Journal of Inherited Metabolic Disease|August 27, 2020
Quantitative retrospective natural history modeling for orphan drug developmentSven F Garbade, Matthias Zielonka, Shoko Komatsuzaki, et al.Journal of Inherited Metabolic Disease|November 8, 2017
Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expressionXing-Li Meng, Erland Arning, Mary Wight-Carter, et al.Frontiers in Neurology|January 31, 2018
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological FindingsTatiana Bremova-Ertl, Raphael Schiffmann, Marc C Patterson, et al.Pageof 27