Resultados de procura - Stibůrková, Blanka

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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... por Hurba, Olha, Mancikova, Andrea, Krylov, Vladimir, Pavlikova, Marketa, Pavelka, Karel, Stibůrková, Blanka

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Multiple common and rare variants of ABCG2 cause gout por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout por 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

Ligazón do recurso Ligazón do recurso Ligazón do recurso