Publikace
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | 1. lékařská fakulta
- Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis2021 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- Metabolism of sulfur compounds in homocystinurias2019 | 1. lékařská fakulta
- Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase2018 | 1. lékařská fakulta
- Thioethers as markers of hydrogen sulfide production in homocystinurias2016 | 1. lékařská fakulta
- Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients2015 | 1. lékařská fakulta
- Mutace cystathionin beta-syntasy: efekt lokalizace mutací na skládání a aktivitu.2010 | 1. lékařská fakulta
- Novorozenecká prevalence homocystinurie ve střední Evropě – frekvence a patogenita mutace c.1105C>T (p.R369C) v genu pro cystathionin β-syntázu.2009 | 1. lékařská fakulta
- Diversity of Cystathionine beta-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833>C:A Possible Role for Gene Conversion2007 | 1. lékařská fakulta
- Diversity of Cystathionine beta-Synthase Haplotypes Bearing the Most Common Homacystinutia Mutation c.833>C:A Posssible Role for Gene Conversion2007 | 1. lékařská fakulta
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