1,013
Views
7
CrossRef citations to date
0
Altmetric
Original Article

Pharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjects

, , , &
Pages 87-93 | Accepted 17 Jul 2013, Published online: 24 Jul 2013

References

  • Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease. 8th edn. New York, NY: McGraw Hill, 2001. p 3733-74
  • Brady RO, Gal AE, Bradley RM, et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163-7
  • Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 2005;94:87-92; discussion 79
  • Kint JA. The enzyme defect in Fabry's disease. Nature 1970;227:1173
  • Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-48
  • Benjamin ER, Flanagan JJ, Schilling A, et al. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 2009;32:424-40
  • Fan JQ, Ishii S, Asano N, et al. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1999;5:112-5
  • Fan JQ. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci 2003;24:355-60
  • Yam GH, Bosshard N, Zuber C, et al. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol 2006;290:C1076-82
  • Yam GH, Zuber C, Roth J. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J 2005;19:12-18
  • Johnson FK, Mudd PN Jr, Bragat A, et al. Pharmacokinetics and safety of migalastat HCl and effects on agalsidase activity in healthy volunteers. Clin Pharmacol Drug Dev 2013;2:120-32