Publications
- Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity2021 | 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
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | 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
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | 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
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