Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease

J Med Genet. 2000 Nov;37(11):E40. doi: 10.1136/jmg.37.11.e40.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Cardiovascular Diseases / pathology*
  • Child
  • Child, Preschool
  • Fibrosis
  • Follow-Up Studies
  • Gaucher Disease / enzymology
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Glucosylceramidase / genetics
  • Humans
  • Hydrocephalus / pathology*
  • Infant
  • Male
  • Mutation
  • Ophthalmoplegia / pathology*
  • Viscera / pathology

Substances

  • Glucosylceramidase