Type C Niemann-Pick disease

Br J Haematol. 2000 Dec;111(3):718. doi: 10.1046/j.1365-2141.2000.02536.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow Examination
  • Cells, Cultured
  • Cholesterol / metabolism
  • Female
  • Fibroblasts / metabolism
  • Histiocytes / pathology*
  • Humans
  • Inclusion Bodies / ultrastructure
  • Leukocytes / enzymology
  • Macrophages / pathology*
  • Macrophages / ultrastructure
  • Microscopy, Electron
  • Niemann-Pick Diseases / metabolism
  • Niemann-Pick Diseases / pathology*
  • Skin
  • Sphingomyelin Phosphodiesterase / metabolism

Substances

  • Cholesterol
  • Sphingomyelin Phosphodiesterase