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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Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project
Vohnout, Branislav, Rašlová, Katarı́na, Gašparovic̆, Juraj, Franeková, Jana, Fábryová, Lubomı́ra, Belošovic̆ová, Martina, Kovác̆, Gustáv, Šebová, Claudia, Rajecová, Eva, Stavný, Jozef, Babjak, Miron, Donati, Maria B., Iacoviello, Licia
Published in Atherosclerosis. Supplements (01.11.2003)
Published in Atherosclerosis. Supplements (01.11.2003)
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Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn
Brucknerova, Ingrid, Behulova, Darina, Sebova, Claudia, Bzduch, Vladimir, Mach, Mojmir, Dubovicky, Michal, Ujhazy, Eduard
Published in Neuro-endocrinology letters (2009)
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Published in Neuro-endocrinology letters (2009)
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