Type 2 gaucher disease: an expanding phenotype

Mol Genet Metab. 1999 Oct;68(2):209-19. doi: 10.1006/mgme.1999.2918.
No abstract available

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Gaucher Disease / enzymology
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Glucosylceramidase / genetics
  • Humans
  • Mutation
  • Phenotype
  • Skin Abnormalities / pathology

Substances

  • Glucosylceramidase