Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Pavel, Ješina"'
Autor:
Věra, Franková (AUTHOR), Pavel, Ješina (AUTHOR)
Publikováno v:
Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie. 2024, Vol. 79 Issue 6, p349-452. 104p.
Autor:
Aleš Kvasnička, David Friedecký, Radana Brumarová, Markéta Pavlíková, Kateřina Pavelcová, Jana Mašínová, Lenka Hasíková, Jakub Závada, Karel Pavelka, Pavel Ješina, Blanka Stibůrková
Publikováno v:
Arthritis Research & Therapy, Vol 25, Iss 1, Pp 1-16 (2023)
Abstract Background Currently, it is not possible to predict whether patients with hyperuricemia (HUA) will develop gout and how this progression may be affected by urate-lowering treatment (ULT). Our study aimed to evaluate differences in plasma lip
Externí odkaz:
https://doaj.org/article/31ac9cfa6c504c3cbf5bfdb4c1ca733a
Autor:
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
Publikováno v:
Redox Biology, Vol 58, Iss , Pp 102517- (2022)
Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by studying patients with respective genetic defects. We analyzed sulfur compounds (including
Externí odkaz:
https://doaj.org/article/c104284c656d4baba6f0fc3dc95350b4
Autor:
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
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-18 (2020)
Abstract Background For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathio
Externí odkaz:
https://doaj.org/article/bb41910d26df4c4cadf124f6b973f35f
Publikováno v:
Arthritis Research & Therapy, Vol 21, Iss 1, Pp 1-10 (2019)
Abstract Background ABCG2 is a high-capacity urate transporter that plays a crucial role in renal urate overload and extra-renal urate underexcretion. Previous studies have suggested an association between hyperuricemia and gout susceptibility relati
Externí odkaz:
https://doaj.org/article/eabeafd0922d4141b2c23c10f17ccffb
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
The aim of the present study was to elucidate the effect of resveratrol (natural polyphenol) on seizure activity, production of ROS, brain damage and mitochondrial function in the early phase of status epilepticus (SE), induced in immature 12 day-old
Externí odkaz:
https://doaj.org/article/53fa2021714a4760bfe4abda404ebca7
Autor:
Pavel Ješina, Alena Kopecká
Publikováno v:
Medicína pro praxi. 20:112-114
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99b221dce2e3fc0e50b04523de81a228
https://doi.org/10.36290/med.2023.016
https://doi.org/10.36290/med.2023.016
Autor:
Renata Formánková, Petr Říha, Petra Keslová, Pavel Ješina, Tomáš Honzík, Martin Magner, Jan Starý, Petr Sedláček, Jiří Zeman
Publikováno v:
Česko-slovenská pediatrie. 77:276-283
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fc0cbdbc53745e10294eec1169b241c
https://doi.org/10.55095/cspediatrie2022/044
https://doi.org/10.55095/cspediatrie2022/044
Autor:
Ulrike Mütze, Florian Gleich, Sven F. Garbade, Céline Plisson, Luis Aldámiz‐Echevarría, Francisco Arrieta, Diana Ballhausen, Matthias Zielonka, Danijela Petković Ramadža, Matthias R. Baumgartner, Aline Cano, María Concepción García Jiménez, Carlo Dionisi‐Vici, Pavel Ješina, Henk J. Blom, Maria Luz Couce, Silvia Meavilla Olivas, Karine Mention, Fanny Mochel, Andrew A. M. Morris, Helen Mundy, Isabelle Redonnet‐Vernhet, Saikat Santra, Manuel Schiff, Aude Servais, Isidro Vitoria, Martina Huemer, Viktor Kožich, Stefan Kölker
Publikováno v:
Journal of Inherited Metabolic Disease, 45(4), 719-733. Springer Netherlands
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Patient registries for rare diseases enable systematic data collection and can also be used to facilitate postauthorization safety studies (PASS) for orphan drugs. This study evaluates the PASS for betaine anhydrous (Cystadane), conducted as public p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b856ecf57728c53d7cca9c359d9feb
https://doi.org/10.1002/jimd.12499
https://doi.org/10.1002/jimd.12499
Autor:
Věra Franková, Alena Dohnalová, Karolína Pešková, Renata Hermánková, Riona O’Driscoll, Pavel Ješina, Viktor Kožich
Publikováno v:
International Journal of Neonatal Screening, Vol 5, Iss 3, p 35 (2019)
Appropriate and timely education about newborn screening (NBS) helps to foster benefits such as prompt follow up, to promote parents’ autonomy via informed consent and minimize the harms such as reducing the impact of NBS false-positive results. Th
Externí odkaz:
https://doaj.org/article/a800091e230f491588fd2e80ef1efc52