Congenital disorders of glycosylation and their diagnosis in Slovakia
Ing. Zuzana Pakanová, PhD., MUDr. Anna Hlavatá, PhD. MPH, MUDr. Darina Behúlová, PhD., RNDr. Anna Šalingová, RNDr. Ján Mucha, CSc., RNDr. Jana Ziburová, PhD.
Congenital disorders of glycosylation (CDG) is rapidly expanding group of inherited metabolic disorders with various clinical symptoms. A wide range of symptomatology classifies these diseases...