The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement

  title={The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement},
  author={T. Cox and J. Aerts and G. Andria and M. Beck and N. Belmatoug and B. Bembi and R. Chertkoff and S. vom Dahl and D. Elstein and A. Erikson and M. Giralt and R. Heitner and C. Hollak and M. Hřeb{\'i}{\vc}ek and S. A. Lewis and A. Mehta and G. Pastores and A. Rolfs and M. S. S{\'a} Miranda and A. Zimran},
  journal={Journal of Inherited Metabolic Disease},
  • T. Cox, J. Aerts, +17 authors A. Zimran
  • Published 2004
  • Medicine
  • Journal of Inherited Metabolic Disease
  • N-Butyldeoxynojirimycin (NB-DNJ, miglustat 'Zavesca') is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical trials of NB-DNJ in patients with Gaucher's disease demonstrate the therapeutic potential of such substrate inhibitors in the glycolipid storage disorders. However, macrophage-targetted enzyme replacement using intravenous mannose-terminated human glucocerebrosidase (imiglucerase… CONTINUE READING
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