Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

by Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
Published 2017-05-01

Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report

by Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolisek, Peter Valkovič, Matej Škorvánek, Rafal Ploski, Egon Kurča, Štefan Sivák
Published 2021-07-01

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

by Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
Published 2018-04-01