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OTC deficiency
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Mutation Analysis in Families with X-ALD and OTC Deficiency (1)
Publication without faculty affiliation
publication
Mutation Analysis in Families with X-ALD and OTC Deficiency (2)
Publication without faculty affiliation
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Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiency
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Publication without faculty affiliation
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Mutation analysis in families with X-linked adrenoleukodystrophy (X-ALD) and ornithinkarbamoyltransferase (OTC) deficiency
Publication without faculty affiliation
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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
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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
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Disruption of OTC Promoter-enhancer Interaction in a Patient with Symptoms of Ornithine Carbamoyltransferase Deficiency
2010 |
First Faculty of Medicine
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
2015 |
First Faculty of Medicine
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Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency
2017 |
First Faculty of Medicine