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

by Jaroslava Folbergrová, Pavel Ješina, Jakub Otáhal
Published 2021-03-01

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients

by Blanka Stiburkova, Katerina Pavelcova, Marketa Pavlikova, Pavel Ješina, Karel Pavelka
Published 2019-03-01

Factors Influencing Parental Awareness about Newborn Screening

by Věra Franková, Alena Dohnalová, Karolína Pešková, Renata Hermánková, Riona O’Driscoll, Pavel Ješina, Viktor Kožich
Published 2019-09-01

Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-onset Gout

by Yu Toyoda, Kateřina Pavelcová, Jana Bohatá, Pavel Ješina, Yu Kubota, Hiroshi Suzuki, Tappei Takada, Blanka Stiburkova
Published 2021-02-01

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase

by 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
Published 2020-01-01

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...

by 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
Published 2021-08-01