Publications
- Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency2012 | First Faculty of Medicine
- The importance of biogenic amines metabolities determination in cerebrospinal fluid by high performance liquid chromatography in the diagnostics of pediatric neurotransmitter disorders.2011 | First Faculty of Medicine
- Neurotransmitter disorders in childhood and differential diagnosis2010 | 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
Loading network view...