Publications
- Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX2022 | First Faculty of Medicine
- Iron Complexes of Flavonoids-Antioxidant Capacity and Beyond2021 | First Faculty of Medicine
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | First Faculty of Medicine
- High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase2015 | First Faculty of Medicine
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | First Faculty of Medicine
- RFT1-CDG in adult siblings with novel mutations2012 | First Faculty of Medicine
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | First Faculty of Medicine
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | First Faculty of Medicine
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
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