Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration. Autor Blanka Stibůrková, Markéta Pavlíková, Jitka Sokolová, Viktor Kožich

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Circulating microRNA alternations in primary hyperuricemia and gout Autor Jana Bohatá, Veronika Horváthová, Markéta Pavlíková, Blanka Stibůrková

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A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia Autor Dinesha Maduri Vidanapathirana, Subashinie Jayasena, Eresha Jasinge, Blanka Stiburkova

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The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients Autor Blanka Stiburkova, Katerina Pavelcova, Marketa Pavlikova, Pavel Ješina, Karel Pavelka

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Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2 Autor Yu Toyoda, Sung Kweon Cho, Sung Kweon Cho, Velibor Tasic, Kateřina Pavelcová, Jana Bohatá, Hiroshi Suzuki, Victor A. David, Jaeho Yoon, Anna Pallaiova, Jana Šaligová, Darryl Nousome, Raul Cachau, Cheryl A. Winkler, Tappei Takada, Blanka Stibůrková, Blanka Stibůrková, Blanka Stibůrková

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Functional Characterization of Rare Variants in OAT1/<i>SLC22A6</i> and OAT3/<i>SLC22A8</i> Urate Transporters Identified in a Gout and Hyperuricemia Cohort Autor Jiří Vávra, Andrea Mančíková, Kateřina Pavelcová, Lenka Hasíková, Jana Bohatá, Blanka Stibůrková

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Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2 Autor Yu Toyoda, Kateřina Pavelcová, Martin Klein, Hiroshi Suzuki, Tappei Takada, Blanka Stiburkova

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Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia Autor Blanka Stiburkova, Jana Bohata, Iveta Minarikova, Andrea Mancikova, Jiri Vavra, Vladimír Krylov, Zdenek Doležel

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Interleukin-37: associations of plasma levels and genetic variants in gout Autor Lucie Andres Cerezo, Adéla Navrátilová, Hana Hulejová, Markéta Pavlíková, Jakub Závada, Karel Pavelka, Ladislav Šenolt, Blanka Stiburkova

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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population Autor Blanka Stiburkova, Jana Bohatá, Kateřina Pavelcová, Velibor Tasic, Dijana Plaseska-Karanfilska, Sung-Kweon Cho, Ludmila Potočnaková, Jana Šaligová

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Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia Autor Daisuke Miyamoto, Nana Sato, Koji Nagata, Yukinao Sakai, Hitoshi Sugihara, Yuki Ohashi, Blanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, Ken Okamoto

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Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment Autor Aleš Kvasnička, David Friedecký, Radana Brumarová, Markéta Pavlíková, Kateřina Pavelcová, Jana Mašínová, Lenka Hasíková, Jakub Závada, Karel Pavelka, Pavel Ješina, Blanka Stibůrková

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Functional Characterization of Clinically-Relevant Rare Variants in <i>ABCG2</i> Identified in a Gout and Hyperuricemia Cohort Autor Yu Toyoda, Andrea Mančíková, Vladimír Krylov, Keito Morimoto, Kateřina Pavelcová, Jana Bohatá, Karel Pavelka, Markéta Pavlíková, Hiroshi Suzuki, Hirotaka Matsuo, Tappei Takada, Blanka Stiburkova

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Uric acid, an important screening tool to detect inborn errors of metabolism: a case series Autor Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova

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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis Autor Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy

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