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Studium
Mgr. Václava Škopová
Externí osoba na 1. lékařská fakulta
15 publikací
Publikace
publication
Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application
2023 |
1. lékařská fakulta
publication
Pathway-specific effects of ADSL deficiency on neurodevelopment
2022 |
1. lékařská fakulta
publication
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds
2022 |
1. lékařská fakulta
publication
Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment
2019 |
1. lékařská fakulta
publication
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome
2019 |
1. lékařská fakulta
publication
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
2018 |
1. lékařská fakulta
publication
Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies
2018 |
1. lékařská fakulta
publication
Mass spectrometric analysis of purine de novo biosynthesis intermediates
2018 |
1. lékařská fakulta
publication
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation
2016 |
1. lékařská fakulta
publication
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots
2015 |
1. lékařská fakulta
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