检索结果 - Sokolová, Jitka

Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration 由 Stibůrková, Blanka, Pavlíková, Markéta, Sokolová, Jitka, Kožich, Viktor

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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 由 Janošík, Miroslav, Sokolová, Jitka, Janošíková, Bohumila, Krijt, Jakub, Klatovská, Veronika, Kožich, Viktor

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Metabolism of sulfur compounds in homocystinurias 由 Kožich, Viktor, Ditrói, Tamás, Sokolová, Jitka, Křížková, Michaela, Krijt, Jakub, Ješina, Pavel, Nagy, Peter

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Impaired Heme Binding and Aggregation of Mutant Cystathionine β-Synthase Subunits in Homocystinuria 由 Janošík, Miroslav, Oliveriusová, Jana, Janošíková, Bohumila, Sokolová, Jitka, Kraus, Eva, Kraus, Jan P., Kožich, Viktor

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Cystathionine β-Synthase Mutations: Effect of Mutation Topology on Folding and Activity 由 Kožich, Viktor, Sokolová, Jitka, Klatovská, Veronika, Krijt, Jakub, Janošík, Miroslav, Jelínek, Karel, Kraus, Jan P, Cooper, David N

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Folate Deficiency Is Associated With Oxidative Stress, Increased Blood Pressure, and Insulin Resistance in Spontaneously Hypertensive Rats 由 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.

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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 由 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

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High Cysteine Diet Reduces Insulin Resistance in SHR-CRP Rats 由 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

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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia 由 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

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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 由 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

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