title: Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002238:Carbohydrate Epimerases / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005690:Galactose; D005808:Genes, Recessive; D005947:Glucose; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D012867:Skin / Q000201:enzymology; D014539:Uridine Diphosphate Sugars
chemical_list: D014539:Uridine Diphosphate Sugars; D002238:Carbohydrate Epimerases; D005947:Glucose; D005690:Galactose