Publikace
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | 1. lékařská fakulta
- Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds2022 | 1. lékařská fakulta
- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | 1. lékařská fakulta
- Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies2018 | 1. lékařská fakulta
- CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation2016 | 1. lékařská fakulta
- Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots2015 | 1. lékařská fakulta
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | 1. lékařská fakulta
- Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders2013 | 1. lékařská fakulta
- Mutace v genech pro ATIC a ADSL ovlivňují formování purinosomu v kultivovaných kožních fibroblastech pacientů s AICA-ribosidurií a deficitem ADSL.2012 | 1. lékařská fakulta
- Molekulární charakterizace AdeI mutanta křeččích ovariálních buněk: buněčný model deficitu adenylosukcinát lyasy2011 | 1. lékařská fakulta
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