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Urea cycle disorders
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publication
Urea cycle disorders, Arginine Chloride in the treatment of hyperammonemia
2021 |
Publication without faculty affiliation
publication
Late onset of inherited urea cycle disorder - ornithine transcarbamoylase deficiency
2016 |
First Faculty of Medicine
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 |
First Faculty of Medicine
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
2015 |
First Faculty of Medicine
publication
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
2016 |
First Faculty of Medicine
publication
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
2016 |
First Faculty of Medicine
publication
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases
Publication without faculty affiliation
publication
Branched-Chain Amino Acids and Branched-Chain Keto Acids in Hyperammonemic States: Metabolism and as Supplements
2020 |
Faculty of Medicine in Hradec Králové
publication
Inborn errors of amino acid, organic acid metabolism and disorders of the urea cycle
2022 |
First Faculty of Medicine
publication
Comprehensive characterization of ureagenesis in the spf(ash) mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification
2019 |
First Faculty of Medicine
publication
New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis
2003 |
First Faculty of Medicine
publication
New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis
2003 |
Faculty of Physical Education and Sport
publication
Phenylbutyrate exerts adverse effects on liver regeneration and amino acid concentrations in partially hepatectomized rats
2016 |
Faculty of Medicine in Hradec Králové
publication
Acute effects of phenylbutyrate on glutamine, branched-chain amino acid and protein metabolism in skeletal muscles of rats
2017 |
Faculty of Medicine in Hradec Králové
publication
Branched-chain amino acids in health and disease: metabolism, alterations in blood plasma, and as supplements
2018 |
Faculty of Medicine in Hradec Králové