Clinical findings in Niemann-Pick disease type B

Intern Med J. 2006 Feb;36(2):135-6. doi: 10.1111/j.1445-5994.2005.01013.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow / pathology
  • DNA / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Mutation*
  • Niemann-Pick Diseases / diagnosis
  • Niemann-Pick Diseases / genetics*
  • Sphingomyelin Phosphodiesterase / genetics*
  • Tomography, X-Ray Computed

Substances

  • DNA
  • Sphingomyelin Phosphodiesterase