A patient with severe type of epimerase deficiency galactosaemia

J Inherit Metab Dis. 1988:11 Suppl 2:249-51. doi: 10.1007/BF01804249.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carbohydrate Epimerases / deficiency*
  • Female
  • Galactosemias / blood*
  • Galactosemias / enzymology
  • Galactosephosphates / blood
  • Humans
  • Infant, Newborn
  • UDPglucose 4-Epimerase / deficiency*
  • Uridine Diphosphate Galactose / blood

Substances

  • Galactosephosphates
  • galactose-1-phosphate
  • Uridine Diphosphate Galactose
  • Carbohydrate Epimerases
  • UDPglucose 4-Epimerase