Storage by excessive blood cell destruction or due to Niemann-Pick disease type C: an ambiguous case

J Inherit Metab Dis. 1992;15(2):289-91. doi: 10.1007/BF01799649.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Hemolysis*
  • Humans
  • Macrophages / metabolism
  • Macrophages / pathology
  • Male
  • Niemann-Pick Diseases / blood*
  • Niemann-Pick Diseases / complications
  • Niemann-Pick Diseases / pathology
  • Sphingomyelin Phosphodiesterase / deficiency
  • Splenomegaly
  • Thalassemia / complications
  • Thalassemia / pathology

Substances

  • Sphingomyelin Phosphodiesterase