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gene cause
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Jakub Krijt
External person at First Faculty of Medicine
89 publications
Publications
publication
Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis
2013 |
First Faculty of Medicine
publication
The Cysteine Dioxgenase Knockout Mouse: Altered Cysteine Metabolism in Nonhepatic Tissues Leads to Excess H2S/HS- Production and Evidence of Pancreatic and Lung Toxicity
2013 |
First Faculty of Medicine
publication
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
2012 |
First Faculty of Medicine
publication
Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I
2012 |
First Faculty of Medicine
publication
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
2012 |
First Faculty of Medicine
publication
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
2010 |
First Faculty of Medicine
publication
Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP
2010 |
First Faculty of Medicine
publication
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment
2010 |
First Faculty of Medicine
publication
Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C > T (p.R369C) in the Cystathionine Beta-Synthase Gene
2009 |
First Faculty of Medicine
publication
Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease
2003 |
First Faculty of Medicine, Third Faculty of Medicine
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