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Filipin test in cultured fibroblasts

Filipin staining in skin fibroblast cultures challenged with low density lipoprotein. Intense fluorescence of perinuclear vesicles in "classical" Niemann-Pick C (NPC) cells (A), milder staining in "variant" NPC cells (B), compared to normal cells (C), and "typical" NPC heterozygote cells (D) (Vanier and Suzuki 1998)

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Associated Disorders

  • Ataxia
  • Cataplexy
  • Dystonia
  • Epilepsy
  • Fetal hydrops
  • Narcolepsy
  • Neonatal cholestatic icterus
  • Neonatal hepatitis
  • Psychosis
  • Vertical supranuclear palsy