Coexistence of Gaucher disease type 1 and Joubert syndrome

J Med Genet. 1998 Nov;35(11):965-6. doi: 10.1136/jmg.35.11.965.
No abstract available

Publication types

  • Letter

MeSH terms

  • Cells, Cultured
  • Cerebellar Diseases / complications*
  • Cerebellar Diseases / enzymology
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Female
  • Gaucher Disease / complications*
  • Glucosylceramidase / deficiency
  • Humans
  • Infant
  • Male
  • Pedigree
  • Syndrome

Substances

  • Glucosylceramidase