Publications
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | First Faculty of Medicine, Central Library of Charles University
- Dissecting the Role of Folr1 and Folh1 Genes in the Pathogenesis of Metabolic Syndrome in Spontaneously Hypertensive Rats2018 | First Faculty of Medicine
- Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency2017 | 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
- 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
- Cysteine restriction-specific effects of sulfur amino acid restriction on lipid metabolism2022 | First Faculty of Medicine, Faculty of Mathematics and Physics
- 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
- High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats2021 | First Faculty of Medicine, Faculty of Science
- A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia2020 | First Faculty of Medicine, Central Library of Charles University, Faculty of Science, Second Faculty of Medicine
Loading network view...