Sheela Sitaraman

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

Richie Khanna, Rebecca Soska, Yi Lun et al. · Molecular Therapy · 2009 · 140 citations · Full text

Life Sciences, Biochemistry, Pharmacology +16

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Benedikt Schoser, Mark Roberts, Barry J. Byrne et al. · The Lancet Neurology · 2021 · 132 citations · Full text

Pharmacy, Internal Medicine, Pharmacotherapy +3

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

Dominique P. Germain, Roberto Giugliani, Derralynn Hughes et al. · Orphanet Journal of Rare Diseases · 2012 · 103 citations · Full text

Life Sciences, Biochemistry, Pharmacology +15

Regulatory strategies for rare diseases under current global regulatory statutes: a discussion with stakeholders

Andrew E. Mulberg, Christina Bucci‐Rechtweg, Joseph Giuliano et al. · Orphanet Journal of Rare Diseases · 2019 · 71 citations · Full text

Medicine, Pediatrics, Pharmacology +13

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, Myrl Holida et al. · PLoS ONE · 2015 · 62 citations · Full text

Life Sciences, Pharmacokinetics, Pharmacology +17