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

Por Konkoľová, Jana, Chandoga, Ján, Kováčik, Juraj, Repiský, Marcel, Kramarová, Veronika, Paučinová, Ivana, Böhmer, Daniel
Publicado no BMC Med Genet (2017)

The effect of simvastatin on lipid droplets accumulation in human embryonic kidney cells and pancreatic cancer cells

Por Gbelcová, Helena, Švéda, Martin, Laubertová, Lucia, Varga, Ivan, Vítek, Libor, Kolář, Michal, Strnad, Hynek, Zelenka, Jaroslav, Böhmer, Daniel, Ruml, Tomáš
Publicado em 2013

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

Por Lisyová, Jana, Chandoga, Ján, Jungová, Petra, Repiský, Marcel, Knapková, Mária, Machková, Martina, Dluholucký, Svetozár, Behúlová, Darina, Šaligová, Jana, Potočňáková, Ľudmila, Lysinová, Miroslava, Böhmer, Daniel
Publicado no BMC Med Genet (2018)