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...
Monitoring and diagnostics of intestinal parasitoses in children from a segregated settlement
Gabriela Štrkolcová, Kristína Mravcová, Ján Mucha, Marián Maďar, Jana Kačírová, Katarína Gajdošová, Mária Goldová
In the years 2013 – 2019, we monitored intestinal parasites in children in a segregated Roma settlement in the town of Medzev. We examined 434...
Keywords: children, deti, endoparasites, endoparazity, helminths, helminty, methods, metódy, protozoá
Kristína Mravcová, Gabriela Štrkolcová, Ingrid Urbančíková, Katarína Gombošová, Miroslava Petrášova, Ján Mucha, Katarína Gajdošová, Mária Goldová
Giardia duodenalis is one of the most common intestinal parasites of animals and humans worldwide. In our study, we report the incidence of G. duodenalis...
The diagnosis of lysosomal storage disorders requires a highly personalized approach as these diseases cov- er a wide range of hereditary metabolic disorders with highly...
