Galactosaemia: relationship of IQ to biochemical control and genotype

J Inherit Metab Dis. 1995;18(2):151-2. doi: 10.1007/BF00711752.
No abstract available

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Brain Diseases, Metabolic / complications
  • Brain Diseases, Metabolic / genetics
  • Brain Diseases, Metabolic / metabolism
  • Child, Preschool
  • Female
  • Galactosemias / blood*
  • Galactosemias / complications
  • Galactosemias / genetics
  • Galactosephosphates / metabolism*
  • Humans
  • Intelligence Tests*
  • Mutation*
  • Pregnancy
  • UDPglucose-Hexose-1-Phosphate Uridylyltransferase / deficiency
  • UDPglucose-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

  • Galactosephosphates
  • galactose-1-phosphate
  • UDPglucose-Hexose-1-Phosphate Uridylyltransferase