Rezultati - Stibůrková, Blanka

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

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

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

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

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Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect o... od Hurba, Olha, Mancikova, Andrea, Krylov, Vladimir, Pavlikova, Marketa, Pavelka, Karel, Stibůrková, Blanka

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

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Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout od Pavelcova, Katerina, Bohata, Jana, Pavlikova, Marketa, Bubenikova, Eliska, Pavelka, Karel, Stiburkova, Blanka

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

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Interaction of the p.Q141K Variant of the ABCG2 Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout od Horváthová, Veronika, Bohatá, Jana, Pavlíková, Markéta, Pavelcová, Kateřina, Pavelka, Karel, Šenolt, Ladislav, Stibůrková, Blanka

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Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis od Stiburkova, Blanka, Sebesta, Ivan, Ichida, Kimiyoshi, Nakamura, Makiko, Hulkova, Helena, Krylov, Vladimir, Kryspinova, Lenka, Jahnova, Helena

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Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout od Toyoda, Yu, Pavelcová, Kateřina, Bohatá, Jana, Ješina, Pavel, Kubota, Yu, Suzuki, Hiroshi, Takada, Tappei, Stiburkova, Blanka

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

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

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

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females od Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav

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

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A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia od 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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Multiple common and rare variants of ABCG2 cause gout od Higashino, Toshihide, Takada, Tappei, Nakaoka, Hirofumi, Toyoda, Yu, Stiburkova, Blanka, Miyata, Hiroshi, Ikebuchi, Yuki, Nakashima, Hiroshi, Shimizu, Seiko, Kawaguchi, Makoto, Sakiyama, Masayuki, Nakayama, Akiyoshi, Akashi, Airi, Tanahashi, Yuki, Kawamura, Yusuke, Nakamura, Takahiro, Wakai, Kenji, Okada, Rieko, Yamamoto, Ken, Hosomichi, Kazuyoshi, Hosoya, Tatsuo, Ichida, Kimiyoshi, Ooyama, Hiroshi, Suzuki, Hiroshi, Inoue, Ituro, Merriman, Tony R, Shinomiya, Nariyoshi, Matsuo, Hirotaka

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GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes od Nakayama, Akiyoshi, Nakaoka, Hirofumi, Yamamoto, Ken, Sakiyama, Masayuki, Shaukat, Amara, Toyoda, Yu, Okada, Yukinori, Kamatani, Yoichiro, Nakamura, Takahiro, Takada, Tappei, Inoue, Katsuhisa, Yasujima, Tomoya, Yuasa, Hiroaki, Shirahama, Yuko, Nakashima, Hiroshi, Shimizu, Seiko, Higashino, Toshihide, Kawamura, Yusuke, Ogata, Hiraku, Kawaguchi, Makoto, Ohkawa, Yasuyuki, Danjoh, Inaho, Tokumasu, Atsumi, Ooyama, Keiko, Ito, Toshimitsu, Kondo, Takaaki, Wakai, Kenji, Stiburkova, Blanka, Pavelka, Karel, Stamp, Lisa K, Dalbeth, Nicola, Sakurai, Yutaka, Suzuki, Hiroshi, Hosoyamada, Makoto, Fujimori, Shin, Yokoo, Takashi, Hosoya, Tatsuo, Inoue, Ituro, Takahashi, Atsushi, Kubo, Michiaki, Ooyama, Hiroshi, Shimizu, Toru, Ichida, Kimiyoshi, Shinomiya, Nariyoshi, Merriman, Tony R, Matsuo, Hirotaka

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Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout od Kawamura, Yusuke, Nakaoka, Hirofumi, Nakayama, Akiyoshi, Okada, Yukinori, Yamamoto, Ken, Higashino, Toshihide, Sakiyama, Masayuki, Shimizu, Toru, Ooyama, Hiroshi, Ooyama, Keiko, Nagase, Mitsuo, Hidaka, Yuji, Shirahama, Yuko, Hosomichi, Kazuyoshi, Nishida, Yuichiro, Shimoshikiryo, Ippei, Hishida, Asahi, Katsuura-Kamano, Sakurako, Shimizu, Seiko, Kawaguchi, Makoto, Uemura, Hirokazu, Ibusuki, Rie, Hara, Megumi, Naito, Mariko, Takao, Mikiya, Nakajima, Mayuko, Iwasawa, Satoko, Nakashima, Hiroshi, Ohnaka, Keizo, Nakamura, Takahiro, Stiburkova, Blanka, Merriman, Tony R, Nakatochi, Masahiro, Ichihara, Sahoko, Yokota, Mitsuhiro, Takada, Tappei, Saitoh, Tatsuya, Kamatani, Yoichiro, Takahashi, Atsushi, Arisawa, Kokichi, Takezaki, Toshiro, Tanaka, Keitaro, Wakai, Kenji, Kubo, Michiaki, Hosoya, Tatsuo, Ichida, Kimiyoshi, Inoue, Ituro, Shinomiya, Nariyoshi, Matsuo, Hirotaka

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