title: [Galactose-uridyl-transferase deficit in a patient with trisomy 21].
mesh_terms: D002675:Child, Preschool; D002904:Chromosomes, Human, 21-22 and Y; D004912:Erythrocytes / Q000201:enzymology; D005693:Galactosemias / Q000201:enzymology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009713:Nucleotidyltransferases / Q000378:metabolism; D014314:Trisomy; D014424:Turner Syndrome / Q000201:enzymology
chemical_list: D009713:Nucleotidyltransferases
vernacular_title: Deficit di galattosio-uridil-transferasi in un paziente con trisomia 21.