Hasil Pencarian - Pavel Ješina

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  1. 1
    Treatment With Resveratrol Ameliorates Mitochondrial Dysfunction During the Acute Phase of Status Epilepticus in Immature Rats

    Treatment With Resveratrol Ameliorates Mitochondrial Dysfunction During the Acute Phase of Status Epilepticus in Immature Rats oleh Jaroslava Folbergrová, Pavel Ješina, Jakub Otáhal

    Diterbitkan 2021-03-01
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  2. 2
    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 oleh Blanka Stiburkova, Katerina Pavelcova, Marketa Pavlikova, Pavel Ješina, Karel Pavelka

    Diterbitkan 2019-03-01
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  3. 3
    Factors Influencing Parental Awareness about Newborn Screening

    Factors Influencing Parental Awareness about Newborn Screening oleh Věra Franková, Alena Dohnalová, Karolína Pešková, Renata Hermánková, Riona O’Driscoll, Pavel Ješina, Viktor Kožich

    Diterbitkan 2019-09-01
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  4. 4
    Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout

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

    Diterbitkan 2021-02-01
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  5. 5
    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 oleh Aleš Kvasnička, David Friedecký, Radana Brumarová, Markéta Pavlíková, Kateřina Pavelcová, Jana Mašínová, Lenka Hasíková, Jakub Závada, Karel Pavelka, Pavel Ješina, Blanka Stibůrková

    Diterbitkan 2023-12-01
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  6. 6
    A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

    A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase oleh Song Sun, Jochen Weile, Marta Verby, Yingzhou Wu, Yang Wang, Atina G. Cote, Iosifina Fotiadou, Julia Kitaygorodsky, Marc Vidal, Jasper Rine, Pavel Ješina, Viktor Kožich, Frederick P. Roth

    Diterbitkan 2020-01-01
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  7. 7
    Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study

    Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydr... oleh Kristina Rücklová, Eva Hrubá, Markéta Pavlíková, Petr Hanák, Martina Farolfi, Petr Chrastina, Hana Vlášková, Bohdan Kousal, Vratislav Smolka, Hana Foltenová, Tomáš Adam, David Friedecký, Pavel Ješina, Jiří Zeman, Viktor Kožich, Tomáš Honzík

    Diterbitkan 2021-08-01
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  8. 8
    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

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

    Diterbitkan 2022-12-01
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