Publikace
- Elevated homocysteine levels: What inborn errors of metabolism might we be missing?2023 | 1. lékařská fakulta
- 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
- A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia2020 | 1. lékařská fakulta, Ústřední knihovna, Přírodovědecká fakulta, 2. lékařská fakulta
- Metabolism of sulfur compounds in homocystinurias2019 | 1. lékařská fakulta
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | 1. lékařská fakulta, Ústřední knihovna
- Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency2017 | 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
- Folate Deficiency Is Associated With Oxidative Stress, Increased Blood Pressure, and Insulin Resistance in Spontaneously Hypertensive Rats2013 | 1. lékařská fakulta
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