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
- Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency2011 | First Faculty of Medicine
- Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency2010 | First Faculty of Medicine
- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation2010 | First Faculty of Medicine
- Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency2008 | First Faculty of Medicine
- Differential diagnostics of hyperuricaemia in hereditary metabolic diseases2005 | First Faculty of Medicine
- The metabolic and molecular study in six children with short-chain acyl-CoA dehydrogenase deficiencyPublication without faculty affiliation
- Diferential diagnostics of Hyperuricemia in inherited metabolic disordersPublication without faculty affiliation
Loading network view...