Study of a family with Los Angeles, Duarte, and classical galactosemia variants of galactose-1-phosphate uridyl transferase.
D000328:Adult; D002648:Child; D005260:Female; D005693:Galactosemias / Q000201:enzymology*; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008722:Methods; D009713:Nucleotidyltransferases / Q000097:blood*; D010375:Pedigree; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood* / Q000172:deficiency
D009713:Nucleotidyltransferases; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase