Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela
Published in BMC pediatrics (16.12.2021)
Published in BMC pediatrics (16.12.2021)
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Journal Article
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum
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
Published in American journal of medical genetics. Part A (01.11.2021)
Published in American journal of medical genetics. Part A (01.11.2021)
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Journal Article