Đang hiển thị 1 - 15 kết quả của 15 cho tìm kiếm 'Blanka Stibůrková', thời gian truy vấn: 0.05s Tinh chỉnh kết quả
  1. 1
    Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration.

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

    Được phát hành 2014-01-01
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  2. 2
    Circulating microRNA alternations in primary hyperuricemia and gout

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

    Được phát hành 2021-07-01
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  3. 3
    A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia

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

    Được phát hành 2018-06-01
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  4. 4
    The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

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

    Được phát hành 2019-03-01
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  5. 5
    Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2

    Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2 Bằng 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

    Được phát hành 2023-01-01
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  6. 6
    Functional Characterization of Rare Variants in OAT1/<i>SLC22A6</i> and OAT3/<i>SLC22A8</i> Urate Transporters Identified in a Gout and Hyperuricemia Cohort

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

    Được phát hành 2022-03-01
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  7. 7
    Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2

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

    Được phát hành 2019-10-01
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  8. 8
    Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia

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

    Được phát hành 2019-08-01
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  9. 9
    Interleukin-37: associations of plasma levels and genetic variants in gout

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

    Được phát hành 2023-10-01
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  10. 10
    Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population

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

    Được phát hành 2021-11-01
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  11. 11
    Analysis of Purine Metabolism to Elucidate the Pathogenesis of Acute Kidney Injury in Renal Hypouricemia

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

    Được phát hành 2022-07-01
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  12. 12
    Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment

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

    Được phát hành 2023-12-01
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  13. 13
    Functional Characterization of Clinically-Relevant Rare Variants in <i>ABCG2</i> Identified in a Gout and Hyperuricemia Cohort

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

    Được phát hành 2019-04-01
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  14. 14
    Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

    Uric acid, an important screening tool to detect inborn errors of metabolism: a case series Bằng 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

    Được phát hành 2017-09-01
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  15. 15
    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis Bằng 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

    Được phát hành 2022-12-01
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