Publikace
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | 1. lékařská fakulta, Přírodovědecká 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
- Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients2015 | 1. lékařská fakulta
- 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 | 1. lékařská fakulta
- Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria2001 | 1. lékařská fakulta
- Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 de1991997 | 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | 1. lékařská fakulta
- Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism2022 | 1. lékařská fakulta, Matematicko-fyzikální fakulta
- High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats2021 | 1. lékařská fakulta, Přírodovědecká fakulta
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