Browsing by Author "Wellhoefer, Hartmann"
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A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
Mehta, Atul B.; Ramaswami, Uma; Muenzer, Joseph; Giugliani, Roberto; Ullrich, Kurt; Histed, Tanya Collin; Panahloo, Zoya; Wellhoefer, Hartmann; Frader, Joel (2021) [Journal article]Background: Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifesta‑ tions and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement ... -
Evaluating enzyme replacement therapies for Anderson-Fabry disease : commentary on a recent report
Giugliani, Roberto; Westwood, Stephanie; Wellhoefer, Hartmann; Schenk, Jörn Magnus; Gurevich, Andrey; Kampmann, Christoph (2018) [Journal article]Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases ...