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Search for publications relevant for "ornithine transcarbamylase (OTC) deficiency"
ornithine transcarbamylase (OTC) deficiency
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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
Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency
2018 |
First Faculty of Medicine, Central Library of Charles University
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 |
First Faculty of Medicine