Publications
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | First Faculty of Medicine
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | First Faculty of Medicine, Faculty of Science
- 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
- Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice2021 | First Faculty of Medicine
- Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B-12)-Dependent Level of Methylmalonic Acid2021 | First Faculty of Medicine
- 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
- Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria2020 | First Faculty of Medicine
- Metabolism of sulfur compounds in homocystinurias2019 | First Faculty of Medicine
- Comprehensive characterization of ureagenesis in the spf(ash) mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification2019 | First Faculty of Medicine
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