Scurtul, Maria; Boiciuc, Chiril; Blăniță, Daniela; Sacară, Victoria; Tarcomnicu, Isabela; Stambouli, Danae; Nicolescu, Alina; Deleanu, Calin; Gladun, Sergiu; Ușurelu, Natalia
(Instituţia Medico-Sanitară Publică Institutul Mamei și Copilului, 2021)
Background: Galactosemia is an autosomal recessive metabolic error which is caused by deficiency in four enzymes
coded by GALT, GALK, GALE, and GALM genes. Accumulation of galactose and its metabolites causes nervous
system ...