Lack of Association Between Peripheral Activity of Thyroid Hormones and Elevated TSH Levels in Childhood Obesity

por Lobotková, Denisa, Staníková, Daniela, Staník, Juraj, Cervenová, Ol’ga, Bzdúch, Vladimír, Tichá, L’ubica
Publicado 2014

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

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

por Marquardt, Thorsten, Bzduch, Vladimir, Hogrebe, Max, Rust, Stephan, Reunert, Janine, Grüneberg, Marianne, Park, Julien, Callewaert, Nico, Lachmann, Robin, Wada, Yoshinao, Engel, Thomas
Publicado 2020

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum

por Ziburová, Jana, Nemčovič, Marek, Šesták, Sergej, Bellová, Jana, Pakanová, Zuzana, Siváková, Barbara, Šalingová, Anna, Šebová, Claudia, Ostrožlíková, Mária, Lekka, Dimitra‐Evanthia, Brucknerová, Jana, Brucknerová, Ingrid, Skokňová, Martina, Mc Cullough, Alexandra, Hrčková, Gabriela, Hlavatá, Anna, Bzdúch, Vladimír, Mucha, Ján, Baráth, Peter
Publicado 2021