Prenatal diagnosis of Niemann-Pick disease type A using chromogenic substrate

Lancet. 1977 Jul 16;2(8029):144. doi: 10.1016/s0140-6736(77)90159-3.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amniotic Fluid / cytology
  • Choline / analogs & derivatives*
  • Female
  • Fibroblasts
  • Humans
  • Niemann-Pick Diseases / diagnosis*
  • Phosphorylcholine / analogs & derivatives*
  • Pregnancy
  • Prenatal Diagnosis*
  • Skin / pathology
  • Sphingomyelins

Substances

  • Sphingomyelins
  • Phosphorylcholine
  • Choline