Publications
- Dissecting the Role of Folr1 and Folh1 Genes in the Pathogenesis of Metabolic Syndrome in Spontaneously Hypertensive Rats2018 | First Faculty of Medicine
- Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients2015 | First Faculty of Medicine
- High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction2015 | First Faculty of Medicine
- Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population2012 | First Faculty of Medicine
- Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion2007 | First Faculty of Medicine
- Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria2004 | First Faculty of Medicine
- The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype2004 | First Faculty of Medicine
- Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria2001 | First Faculty of Medicine
- Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles2001 | First Faculty of Medicine
- Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 de1991997 | First Faculty of Medicine, Faculty of Physical Education and Sport
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