Farber's lipogranulomatosis: ceramidase deficiency and prolonged survival in three relatives

Johns Hopkins Med J. 1980 Nov;147(5):193-6.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Amidohydrolases / deficiency*
  • Ceramidases
  • Ceramides / deficiency
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / genetics
  • Pedigree

Substances

  • Ceramides
  • Amidohydrolases
  • Ceramidases