Classes
Publications
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | First Faculty of Medicine
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | First Faculty of Medicine
- Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders2013 | First Faculty of Medicine
- Rotorsyndrome is conditioned by impaired liver uptake of conjugated bilirubin2012 | First Faculty of Medicine
- Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency2011 | First Faculty of Medicine
- Detection of viral infections by an oligonucleotide microarray2010 | First Faculty of Medicine
- D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.2008 | First Faculty of Medicine
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency2008 | First Faculty of Medicine
- Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat2024 | First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
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