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ADSLD
Person
Class
Person
Publication
Programmes
Ing. Marie Zikánová Ph.D.
Academic staff at First Faculty of Medicine
1 class
35 publications
Class
class
Practical Course of Preparation of recombinant proteins as a basis for structural biology
B81679 |
First Faculty of Medicine
Publications
publication
Pathway-specific effects of ADSL deficiency on neurodevelopment
2022 |
First Faculty of Medicine
publication
Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application
2023 |
First Faculty of Medicine
publication
Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis
2022 |
First Faculty of Medicine
publication
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds
2022 |
First Faculty of Medicine
publication
Transcriptome and metabolome analysis of crGART, a novel cell model of de novo purine synthesis deficiency: Alterations in CD36 expression and activity
2021 |
First Faculty of Medicine
publication
Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
2020 |
First Faculty of Medicine
publication
The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation
2020 |
First Faculty of Medicine
publication
Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer
2019 |
First Faculty of Medicine
publication
Metabolic Tools for Identification of New Mutations of Enzymes Engaged in Purine Synthesis Leading to Neurological Impairment
2019 |
First Faculty of Medicine
publication
The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation
2019 |
First Faculty of Medicine
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