Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

Acta Neuropathol. 1978 Aug 7;43(1-2):97-104. doi: 10.1007/BF00685003.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amniotic Fluid / analysis
  • Bone Marrow / pathology
  • Child, Preschool
  • Demyelinating Diseases / pathology
  • Female
  • Fetal Diseases / pathology*
  • Humans
  • Inclusion Bodies
  • Neurons
  • Niemann-Pick Diseases / diagnosis
  • Niemann-Pick Diseases / genetics
  • Niemann-Pick Diseases / metabolism
  • Niemann-Pick Diseases / pathology*
  • Pregnancy
  • Prenatal Diagnosis
  • Rectum / pathology
  • Sphingomyelin Phosphodiesterase / analysis

Substances

  • Sphingomyelin Phosphodiesterase