Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium

por Sysák, Rastislav, Brennerová, Katarína, Krlín, Romana, Štencl, Peter, Rusňák, Igor, Vargová, Mária
Publicado 2022

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

por Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela
Publicado 2021

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

por Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela
Publicado 2023

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant

por Kodríková, Rebeka, Pakanová, Zuzana, Krchňák, Maroš, Šedivá, Mária, Šesták, Sergej, Květoň, Filip, Beke, Gábor, Šalingová, Anna, Skalická, Katarína, Brennerová, Katarína, Jančová, Emília, Baráth, Peter, Mucha, Ján, Nemčovič, Marek
Publicado 2023