Milánkovics, Ilona; Schuler A; Kamory E; Csokay B; Fodor F; Somogyi C; Németh, Krisztina; Fekete, György
(2010)
BACKGROUND: Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in ...