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urea cycle disorders
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Studium
publication
Poruchy cyklu močoviny, Arginin Chlorid v léčbě hyperamonémie
2021 |
Publikace bez příslušnosti k fakultě
publication
Pozdní manifestace dědičné poruchy cyklu močoviny - deficit ornitintranskarbamoylázy
2016 |
1. lékařská fakulta
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 |
1. lékařská fakulta
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
2015 |
1. lékařská fakulta
publication
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
2016 |
1. lékařská fakulta
publication
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
2016 |
1. lékařská fakulta
publication
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases
Publikace bez příslušnosti k fakultě
publication
Branched-Chain Amino Acids and Branched-Chain Keto Acids in Hyperammonemic States: Metabolism and as Supplements
2020 |
Lékařská fakulta v Hradci Králové
publication
Dědičné poruchy metabolismu aminokyselin, organických kyselin a cyklu močoviny
2022 |
1. lékařská fakulta
publication
Comprehensive characterization of ureagenesis in the spf(ash) mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification
2019 |
1. lékařská fakulta
publication
New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis
2003 |
1. lékařská fakulta
publication
New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis
2003 |
Fakulta tělesné výchovy a sportu
publication
Phenylbutyrate exerts adverse effects on liver regeneration and amino acid concentrations in partially hepatectomized rats
2016 |
Lékařská fakulta v Hradci Králové
publication
Acute effects of phenylbutyrate on glutamine, branched-chain amino acid and protein metabolism in skeletal muscles of rats
2017 |
Lékařská fakulta v Hradci Králové
publication
Branched-chain amino acids in health and disease: metabolism, alterations in blood plasma, and as supplements
2018 |
Lékařská fakulta v Hradci Králové