Publications
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | 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
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | First Faculty of Medicine
- Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies2018 | 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
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | 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
- Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency2012 | First Faculty of Medicine
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