Study of a family with both galactosemic and Duarte variants of galactose-1-phospho uridyl transferase.
D000483:Alleles; D001797:Blood Protein Electrophoresis; D002478:Cells, Cultured; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005690:Galactose; D005693:Galactosemias / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D014644:Genetic Variation; D006579:Heterozygote; D006600:Hexosephosphates; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009713:Nucleotidyltransferases / Q000097:blood* / Q000378:metabolism; D010375:Pedigree; D014500:Uracil Nucleotides
D006600:Hexosephosphates; D014500:Uracil Nucleotides; D009713:Nucleotidyltransferases; D005690:Galactose