[Sandhoff's disease: clinical and genetic study of a French-Canadian child]

Union Med Can. 1974 Jul;103(7):1218-22.
[Article in French]
No abstract available

Publication types

  • English Abstract

MeSH terms

  • Consanguinity
  • Diagnosis, Differential
  • Electrophoresis
  • Eye Movements
  • Female
  • Fundus Oculi
  • Gangliosides / metabolism*
  • Genetic Counseling
  • Heterozygote
  • Hexosaminidases / blood
  • Humans
  • Infant
  • Leukocytes / analysis
  • Lipidoses / diagnosis
  • Motor Activity
  • Pedigree
  • Sphingolipidoses / blood
  • Sphingolipidoses / diagnosis*
  • Sphingolipidoses / genetics

Substances

  • Gangliosides
  • Hexosaminidases