Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population

por Stiburkova, Blanka, Bohatá, Jana, Pavelcová, Kateřina, Tasic, Velibor, Plaseska-Karanfilska, Dijana, Cho, Sung-Kweon, Potočnaková, Ludmila, Šaligová, Jana
Publicado 2021

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 2018