Classes
Publications
- Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population2012 | First Faculty of Medicine
- Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones2011 | First Faculty of Medicine
- Neonatal screening in the Czech Republic2010 | First Faculty of Medicine, Third Faculty of Medicine
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations2010 | First Faculty of Medicine
- Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment2010 | 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
- Genetic determinants of folate status in Central Bohemia2005 | First Faculty of Medicine, Third Faculty of Medicine
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | First Faculty of Medicine
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria2023 | First Faculty of Medicine
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