Résultats de la recherche - Sokolová, Jitka
- Résultat(s) 1 - 10 résultats de 10
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Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene par Janošík, Miroslav, Sokolová, Jitka, Janošíková, Bohumila, Krijt, Jakub, Klatovská, Veronika, Kožich, Viktor
Publié 2009Texte -
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Cystathionine β-Synthase Mutations: Effect of Mutation Topology on Folding and Activity par Kožich, Viktor, Sokolová, Jitka, Klatovská, Veronika, Krijt, Jakub, Janošík, Miroslav, Jelínek, Karel, Kraus, Jan P, Cooper, David N
Publié 2010Texte -
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Folate Deficiency Is Associated With Oxidative Stress, Increased Blood Pressure, and Insulin Resistance in Spontaneously Hypertensive Rats par Pravenec, Michal, Kožich, Viktor, Krijt, Jakub, Sokolová, Jitka, Zídek, Václav, Landa, Vladimír, Šimáková, Miroslava, Mlejnek, Petr, Šilhavý, Jan, Oliyarnyk, Olena, Kazdová, Ludmila, Kurtz, Theodore W.
Publié 2013Texte -
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Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis par Kožich, Viktor, Sokolová, Jitka, Morris, Andrew A. M., Pavlíková, Markéta, Gleich, Florian, Kölker, Stefan, Krijt, Jakub, Dionisi‐Vici, Carlo, Baumgartner, Matthias R., Blom, Henk J., Huemer, Martina
Publié 2020Texte -
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High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats par KRIJT, Jakub, SOKOLOVÁ, Jitka, ŠILHAVÝ, Jan, MLEJNEK, Petr, KUBOVČIAK, Jan, LIŠKA, František, MALÍNSKÁ, Hana, HÜTTL, Martina, MARKOVÁ, Irena, KŘÍŽKOVÁ, Michaela, STIPANUK, Martha H., KŘÍŽEK, Tomáš, DITROI, Tamas, NAGY, Peter, KOŽICH, Viktor, PRAVENEC, Michal
Publié 2021Texte -
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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia par Svaton, Michael, Skvarova Kramarzova, Karolina, Kanderova, Veronika, Mancikova, Andrea, Smisek, Petr, Jesina, Pavel, Krijt, Jakub, Stiburkova, Blanka, Dobrovolny, Robert, Sokolova, Jitka, Bakardjieva-Mihaylova, Violeta, Vodickova, Elena, Rackova, Marketa, Stuchly, Jan, Kalina, Tomas, Stary, Jan, Trka, Jan, Fronkova, Eva, Kozich, Viktor
Publié 2020Texte -
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Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion par Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Publié 2007Texte