Publications
- 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
- Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer2019 | 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
- 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
- Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots2015 | First Faculty of Medicine
- Adenylosuccinate lyase deficiency2015 | First Faculty of Medicine
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