Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families

J Pediatr. 1973 Oct;83(4):607-11. doi: 10.1016/s0022-3476(73)80222-7.
No abstract available

MeSH terms

  • Acetamides
  • Adolescent
  • Adult
  • Aged
  • Carbohydrate Metabolism, Inborn Errors / enzymology*
  • Carbohydrate Metabolism, Inborn Errors / genetics
  • Child
  • Child, Preschool
  • Female
  • Glycosaminoglycans / metabolism*
  • Heterozygote
  • Hexosaminidases / blood*
  • Homozygote
  • Humans
  • Intellectual Disability / enzymology*
  • Intellectual Disability / genetics
  • Male
  • Middle Aged
  • Nitrophenols
  • Pedigree
  • Uridine Diphosphate Sugars

Substances

  • Acetamides
  • Glycosaminoglycans
  • Nitrophenols
  • Uridine Diphosphate Sugars
  • Hexosaminidases