Browsing by Author "Mehta, Atul B."

Now showing items 1-3 of 3

    • 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 ...

    • Migalastat HCl reduces globotriaosylsphingosine (Lyso- Gb3) in Fabry transgenic mice and in the plasma of Fabry patients 

      Young-Gqamana, Brandy; Brignol, N.; Chang, Hui-Hwa; Khanna, R.; Soska, R.; Fuller, Maria; Sitaraman, Sheela; Germain, Dominique P.; Giugliani, Roberto; Hughes, Derralynn A.; Mehta, Atul B.; Nicholls, Kathy; Boudes, Pol F.; Lockhart, D.J.; Valenzano, K.J.; Benjamin, Elfrida R. (2013) [Journal article]
      Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A (a-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine ...

    • Twenty years of the Fabry Outcome Survey (FOS) : insights, achievements, and lessons learned from a global patient registry 

      Beck, Michael; Ramaswami, Uma; Hernberg-Stahl, E.; Hughes, Derralynn A.; Kampmann, Christoph; Mehta, Atul B.; Nicholls, Kathleen M.; Niu, Dauming; Pintos-Morell, G.; Reisin, Ricardo; West, Michael L.; Schenk, Jörn Magnus; Anagnostopoulou, Christina; Botha, Jaco; Giugliani, Roberto (2022) [Journal article]
      Background: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the efects of treatment on large patient populations with rare diseases. ...