- Dietary treatment in patients with ornithine transcarbamylase deficiencyPublication without faculty affiliation
- New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis2003 | First Faculty of Medicine
- New polymorphic sites within ornithine transcarbamylase gene: population genetics and implications for diagnosis2003 | Faculty of Physical Education and Sport
- Comprehensive characterization of ureagenesis in the spf(ash) mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification2019 | First Faculty of Medicine
- Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene2004 | First Faculty of Medicine
- Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene2004 | Faculty of Physical Education and Sport
- Ornithine transcarbamylase deficiency with organic acid pattern mimicking long-chain3-hydroxyacyl-CoAPublication without faculty affiliation
- Urea cycle disorders, Arginine Chloride in the treatment of hyperammonemia2021 | Publication without faculty affiliation
- Late onset of inherited urea cycle disorder - ornithine transcarbamoylase deficiency2016 | First Faculty of Medicine
- Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency2018 | First Faculty of Medicine, Central Library of Charles University
- Arginine deiminase pathway enzymes: evolutionary history in metamonads and other eukaryotes2016 | Faculty of Science
- Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders2012 | First Faculty of Medicine
- Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseasesPublication without faculty affiliation
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype2015 | First Faculty of Medicine
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation2015 | First Faculty of Medicine
- Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders2016 | First Faculty of Medicine