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Original Article

Case 1 Niemann-Pick Type C

Pages 841-845 | Published online: 09 Jul 2009

References

  • Elleder M. Niemann-Pick Disease. Pathol Res Pract 1989; 185: 293–328
  • Fink J K, Filling-Katz M R, Sokol J, et al. Clinical spectrum of Niemann-Pick disease type C. Neurology 1989; 39: 1040–9
  • Vanier M T, Wenger D A, Comly M E, et al. Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification. Clin Genet 1988; 33: 331–48
  • Vanier M T, Pentchev P, Rodriguez-Lafrasse C, Rousson R. Niemann-Pick disease type C: An update. J Inherit Metab Dis 1991; 14: 580–95
  • Roff C F, Goldin E, Comly M E, et al. Niemann-Pick type C disease: Deficient intracellular transport of exogenously derived cholesterol. Am J Med Genet 1992; 42: 593–8
  • Vanier M T, Rodriguez-Lafrasse C, Rousson R, et al. Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk. Am J Hum Genet 1992; 51: 111–22

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