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Purine metabolism
Publication
Class
Person
Publication
Programmes
publication
Hereditary xanthinuria is not so rare disorder of purine metabolism
2018 |
First Faculty of Medicine
publication
Resistance to TRAIL in mantle cell lymphoma cells is associated with the decreased expression of purine metabolism enzymes
2013 |
First Faculty of Medicine
publication
The key role of purine metabolism in the folate-dependent phenotype of autism spectrum disorders: An in silico analysis
2020 |
Second Faculty of Medicine
publication
Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia
2022 |
First Faculty of Medicine
publication
Purine disorders with hypouricemia
2014 |
First Faculty of Medicine
publication
Revisiting biocrystallization: Purine crystalline inclusions are widespread in eukaryotes
2022 |
Faculty of Science, Faculty of Mathematics and Physics
publication
Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis
2015 |
First Faculty of Medicine
publication
The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers
2013 |
First Faculty of Medicine
publication
Recessive ITPA Mutations Cause an Early Infantile Encephalopathy
2015 |
First Faculty of Medicine
publication
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
2008 |
First Faculty of Medicine
publication
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots
2015 |
First Faculty of Medicine
publication
Screening of adenylosuccinatlyase deficiency - a novel case in the Czech Republic
Publication without faculty affiliation
publication
Aspects of low-purine diet
Publication without faculty affiliation
publication
Partial deficiency of HGPRT in a girl
Publication without faculty affiliation
publication
Diagnostic importance of uric acid
2005 |
First Faculty of Medicine
publication
Urinary pterins in classical xanthinuria
Publication without faculty affiliation
publication
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
2010 |
First Faculty of Medicine
publication
Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
C1'-Branched acyclic nucleoside phosphonates mimicking adenosine monophosphate: Potent inhibitors of Trypanosoma brucei adenine phosphoribosyltransferase
2021 |
Faculty of Science, Central Library of Charles University
publication
An Unusual Cause of Renal Amyloidosis Secondary to Gout - the First Description of Familial Occurrence
2006 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Effects of Workers Exposure to Nanoparticles Studied by NMR Metabolomics
2021 |
First Faculty of Medicine
publication
Adenylosuccinate lyase deficiency
2015 |
First Faculty of Medicine
publication
Xanthine oxidase gene variants and their association with blood pressure and incident hypertension: a population study
2016 |
Faculty of Medicine in Pilsen
publication
Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration
2014 |
First Faculty of Medicine
publication
Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach
2017 |
Second Faculty of Medicine
publication
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II)
2018 |
First Faculty of Medicine
publication
Monogenic variants in dystonia: an exome-wide sequencing study
2020 |
First Faculty of Medicine