Classes
Publications
- 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
- Bioinformatic perspectives in the neuronal ceroid lipofuscinoses2013 | First Faculty of Medicine
- Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency2012 | First Faculty of Medicine
- Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations2012 | First Faculty of Medicine
- Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.2010 | First Faculty of Medicine
- Uromodulin biology and pathophysiology - an update2010 | 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
- D-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.2008 | First Faculty of Medicine
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