Bone marrow smear examination in the diagnosis of Niemann-Pick B disease

Blood. 2016 Aug 4;128(5):738. doi: 10.1182/blood-2016-04-710988. Epub 2016 Aug 4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Bone Marrow Examination / methods*
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Mutation
  • Niemann-Pick Disease, Type B / blood*
  • Niemann-Pick Disease, Type B / diagnosis*
  • Niemann-Pick Disease, Type B / genetics
  • Sphingomyelin Phosphodiesterase / genetics

Substances

  • Sphingomyelin Phosphodiesterase