Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation

Helv Paediatr Acta. 1973 Dec;28(6):497-510.
No abstract available

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Carbohydrate Epimerases / metabolism*
  • Child
  • Child, Preschool
  • Erythrocytes / enzymology
  • Female
  • Fibroblasts / enzymology
  • Galactose
  • Genes, Recessive
  • Glucose
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Leukocytes / enzymology
  • Liver / enzymology
  • Male
  • Metabolism, Inborn Errors / enzymology*
  • Metabolism, Inborn Errors / genetics
  • Middle Aged
  • Pedigree
  • Skin / enzymology
  • Uridine Diphosphate Sugars

Substances

  • Uridine Diphosphate Sugars
  • Carbohydrate Epimerases
  • Glucose
  • Galactose