Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year

@article{Chien2007TreatmentON,
  title={Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year},
  author={Y.-H. Chien and N.-C. Lee and L.-K. Tsai and A. Huang and S.-F. Peng and S.-J. Chen and W.-L. Hwu},
  journal={Journal of Inherited Metabolic Disease},
  year={2007},
  volume={30},
  pages={826-826}
}
Niemann–Pick disease type C (NP-C) is a lipid storage disorder characterized by the accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system of certain cells in the central nervous system (CNS) and visceral organs. Clinical symptoms include progressive neurological deterioration and visceral organomegaly. Miglustat, a small iminosugar molecule approved for the treatment of Gaucher disease, reversibly inhibits glucosylceramide synthase, which catalyses the… CONTINUE READING

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