The application of mass spectrometry in diagnostics of glycosylation disorders
Zuzana Pakanová, Marek Nemčovič, Rebeka Kodríková, Maroš Krchňák, Anna Šalingová, Claudia Šebová, Vladimír Bzdúch, Hana Hansíková, Ján Mucha
Congenital disorders of glycosylation (CDG) are rare hereditary diseases caused by mutations of genes coding enzymes of complex glycosylation pathways. Common clinical manifestation includes growth...
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...
