Publications
- Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application2023 | First Faculty of Medicine
- 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
- Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer2019 | First Faculty of Medicine
- Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment2019 | First Faculty of Medicine
- The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation2019 | First Faculty of Medicine
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | First Faculty of Medicine
- Mass spectrometric analysis of purine de novo biosynthesis intermediates2018 | First Faculty of Medicine
- CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation2016 | First Faculty of Medicine
- Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots2015 | First Faculty of Medicine
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