Torthaí cuardaigh - Markéta Pavlı́ková
- 1 - 12 toradh as 12 á dtaispeáint
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Circulating microRNA alternations in primary hyperuricemia and gout de réir Jana Bohatá, Veronika Horváthová, Markéta Pavlı́ková, Blanka Stibůrková
Foilsithe / Cruthaithe 2021Artigo -
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Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout de réir Kateřina Pavelcová, Jana Bohatá, Markéta Pavlı́ková, Eliška Bubeníková, Karel Pavelká, Blanka Stibůrková
Foilsithe / Cruthaithe 2020Artigo -
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A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents de réir Klára Maratová, D Zemková, Petr Sedlák, Markéta Pavlı́ková, Shenali Anne Amaratunga, H Krásnicanová, Ondřej Souček, Zdenĕk Šumnı́k
Foilsithe / Cruthaithe 2023Artigo -
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Functional non-synonymous variants of ABCG2 and gout risk de réir Blanka Stibůrková, Kateřina Pavelcová, Jakub Závada, Lenka Petrů, Pavel Šimek, Pavel Čepek, Markéta Pavlı́ková, Hirotaka Matsuo, Tony R. Merriman, Karel Pavelká
Foilsithe / Cruthaithe 2017Artigo -
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Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment de réir Aleš Kvasnička, David Friedecký, Radana Brumarová, Markéta Pavlı́ková, Kateřina Pavelcová, Jana Mašínová, Lenka Hasíková, Jakub Závada, Karel Pavelká, Pavel Ješina, Blanka Stibůrková
Foilsithe / Cruthaithe 2023Artigo -
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Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort de réir Yu Toyoda, Andrea Mančíková, Vladimír Krylov, Keito Morimoto, Kateřina Pavelcová, Jana Bohatá, Karel Pavelká, Markéta Pavlı́ková, Hiroshi Suzuki, Hirotaka Matsuo, Tappei Takada, Blanka Stibůrková
Foilsithe / Cruthaithe 2019Artigo -
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Cystathionine β‐Synthase Deficiency in the E‐<scp>HOD</scp> Registry—Part <scp>II</scp>: Dietary and Pharmacological Treatment de réir Andrew A. M. Morris, Jitka Sokolová, Markéta Pavlı́ková, Florian Gleich, Stefan Kölker, Carlo Dionisi‐Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich
Foilsithe / Cruthaithe 2025Artigo -
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Are all HCL systems the same? long term outcomes of three HCL systems in children with type 1 diabetes: real-life registry-based study de réir Alzbeta Šantová, Lukáš Plachý, Vít Neuman, Markéta Pavlı́ková, Lenka Petruželková, Petra Konečná, Petra Venháčová, Jaroslav Škvor, Renata Pomahačová, David L. Neumann, Jan Vosáhlo, Jiří Strnadel, Kamila Kocourková, Barbora Obermannová, Štěpánka Průhová, Ondřej Cinek, Zdenĕk Šumnı́k
Foilsithe / Cruthaithe 2023Artigo -
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Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency de réir Andrew A. M. Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg Ben‐Omran, Anupam Chakrapani, Ellen Crushell, Mick Henderson, Michel Hochuli, Martina Huemer, Miriam C Janssen, F. Maillot, Philip Mayne, Jenny McNulty, Tara M. Morrison, Hélène Ogier, Siobhán O’Sullivan, Markéta Pavlı́ková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J. Blom, Kimberly A. Chapman
Foilsithe / Cruthaithe 2016Revisão -
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Newborn screening for homocystinurias: Recent recommendations versus current practice de réir Rebecca Keller, Petr Chrastina, Markéta Pavlı́ková, Sofía Gouveia, Antònia Ribes, Stefan Kölker, Henk J. Blom, Matthias R. Baumgartner, Josef Bártl, Carlo Dionisi‐Vici, Florian Gleich, Andrew A. M. Morris, Viktor Kožich, Martina Huemer, Ivo Barić, Tawfeq Ben‐Omran, Javier Blasco‐Alonso, María Andrea Delgado, Claudia Carducci, Michela Cassanello, R. Cerone, María L. Couce, Ellen Crushell, Carmen Delgado Pecellín, Elena Dulín, Mercedes Espada, Giulio Ferino, Ralph Fingerhut, I. García Jiménez, Immaculada Gonzalez Gallego, Yolanda González, Gwendolyn Gramer, María Jesús Juan Fita, Eszter Karg, Jeanette Klein, Vassiliki Konstantopoulou, Giancarlo la Marca, Elisa Leão Teles, Vincenzo Leuzzi, Franco Lilliu, Rosa María López, Allan M. Lund, Philip Mayne, Silvia Meavilla, Stuart J. Moat, Jürgen G. Okun, Elisabeta Pasquini, Consuelo Pedrón‐Giner, Gábor Rácz, María Ángeles Ruiz Gómez, Laura Vilarinho, Raquel Yahyaoui, Moja Zerjav Tansek, Rolf Zetterström, Maximilian Zeyda
Foilsithe / Cruthaithe 2019Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Internal medicine
Medicine
Biology
Gene
Gout
Hyperuricemia
Uric acid
Biochemistry
Endocrinology
Genetics
Cohort
Amino acid
Chemistry
Cystathionine beta synthase
Homocystinuria
Methionine
Allele
Allele frequency
Gastroenterology
Genotype
Homocysteine
Metabolic syndrome
Methylenetetrahydrofolate reductase
Minor allele frequency
Obesity
Pediatrics
Transporter
ATP synthase
ATP-binding cassette transporter
Abcg2