Neonatal screening, clinical features and genetic testing for galactosemia.
Zaffanello
Marco
M
Zamboni
Giorgio
G
Schadewaldt
Peter
P
Borgiani
Paola
P
Novelli
Giuseppe
G
D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D013577:Syndrome; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase