Niemann-Pick disease type C. From bench to bedside

JAMA. 1996 Aug 21;276(7):561-4.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Cholesterol / metabolism
  • Disease Progression
  • Esterification
  • Female
  • Fibroblasts / pathology
  • Foam Cells / pathology
  • Genetic Counseling
  • Histiocytes / pathology
  • Humans
  • Infant, Newborn
  • Intelligence Tests
  • Jaundice, Neonatal / etiology
  • Male
  • Nervous System Diseases / etiology
  • Niemann-Pick Diseases* / diagnosis
  • Niemann-Pick Diseases* / genetics
  • Niemann-Pick Diseases* / pathology
  • Niemann-Pick Diseases* / physiopathology
  • Niemann-Pick Diseases* / therapy
  • Splenomegaly / etiology

Substances

  • Cholesterol