Publications
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | First Faculty of Medicine
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | First Faculty of Medicine, Faculty of Science
- Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis2021 | First Faculty of Medicine, Faculty of Mathematics and Physics
- Metabolism of sulfur compounds in homocystinurias2019 | First Faculty of Medicine
- Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase2018 | First Faculty of Medicine
- Thioethers as markers of hydrogen sulfide production in homocystinurias2016 | First Faculty of Medicine
- Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity2010 | First Faculty of Medicine
- Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene2009 | First Faculty of Medicine
- Diversity of Cystathionine beta-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833>C:A Possible Role for Gene Conversion2007 | First Faculty of Medicine
- Diversity of Cystathionine beta-Synthase Haplotypes Bearing the Most Common Homacystinutia Mutation c.833>C:A Posssible Role for Gene Conversion2007 | First Faculty of Medicine
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