Publications
- Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene2020 | First Faculty of Medicine
- The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation2020 | First Faculty of Medicine
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | First Faculty of Medicine
- Adenylosuccinate lyase deficiency2015 | First Faculty of Medicine
- Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature2014 | First Faculty of Medicine
- Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes2003 | First Faculty of Medicine
- Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application2023 | First Faculty of Medicine
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | First Faculty of Medicine
- Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis2022 | First Faculty of Medicine
- Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds2022 | First Faculty of Medicine
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