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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 MT, Suzuki K. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol 1998;8(1):163-74.)

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