Publications
- 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
- Metabolism of sulfur compounds in homocystinurias2019 | First Faculty of Medicine
- Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles2001 | First Faculty of Medicine
- Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223+37 de1991997 | First Faculty of Medicine, Faculty of Physical Education and Sport
- Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders1997 | 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
- 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...
