Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat

Parkinsonism Relat Disord. 2013 Oct;19(10):916-7. doi: 10.1016/j.parkreldis.2013.05.016. Epub 2013 Jun 19.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Deoxynojirimycin / analogs & derivatives*
  • 1-Deoxynojirimycin / therapeutic use
  • Activities of Daily Living
  • Adult
  • Anti-Bacterial Agents
  • Carrier Proteins / genetics
  • Disability Evaluation
  • Enzyme Inhibitors / therapeutic use*
  • Filipin
  • Glycoside Hydrolase Inhibitors*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Membrane Glycoproteins / genetics
  • Niemann-Pick Disease, Type C / drug therapy*
  • Niemann-Pick Disease, Type C / genetics*
  • Phenotype
  • Psychomotor Performance / physiology
  • Saccades / physiology

Substances

  • Anti-Bacterial Agents
  • Carrier Proteins
  • Enzyme Inhibitors
  • Glycoside Hydrolase Inhibitors
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • 1-Deoxynojirimycin
  • Filipin
  • miglustat