Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Lubor Goláň"'
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170881 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0166290.].
Externí odkaz:
https://doaj.org/article/1cbc78abe5c44517bb5b6c8ba59d36e5
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0166290 (2016)
Serum uric acid (UA) elevation is common in patients with cardiovascular, renal and metabolic diseases. However, no study to date has analysed the role of UA in Fabry disease (FD).To evaluate the association between serum UA levels and mortality and
Externí odkaz:
https://doaj.org/article/e9b85156559347c89d6a1ae186725c41
Autor:
Martin Řeboun, Jakub Sikora, Martin Magner, Helena Wiederlechnerová, Alena Černá, Helena Poupětová, Gabriela Štorkánova, Dita Mušálková, Gabriela Dostálová, Lubor Goláň, Aleš Linhart, Lenka Dvořáková
Publikováno v:
American Journal of Medical Genetics Part A. 188:1979-1989
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding alpha-galactosidase A (AGAL). The impact of X-chromosome inactivation (XCI) on the phenotype of female FD patients remains unclear. In this stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37828b34ac95216519875866ad04a6f3
https://doi.org/10.1002/ajmg.a.62728
https://doi.org/10.1002/ajmg.a.62728
Autor:
Lubor Goláň
Publikováno v:
Intervenční a akutní kardiologie. 17:67-70
Fabryho nemoc je dědicne metabolicke onemocněni ze střadani. Postiženi srdce se vyskytuje u větsiny pacientů a manifestujese větsinou jako hypertrofie myokardu. Předpokladem uspěsne lecby je spravna diagnoza a podrobne vysetřeni, jehož zak
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98f003828b716b9309951646aab344d4
https://doi.org/10.36290/kar.2018.039
https://doi.org/10.36290/kar.2018.039
Autor:
Gabriela Dostálová, Petra Reková, Klára Sedláková, Ondřej Kodet, Alena Slováková, Kristýna Bayerová, Lenka Roblová, Lubor Goláň, Aleš Linhart
Publikováno v:
Interní medicína pro praxi. 20:10-13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9cd100d13a2de902555377092268a38
https://doi.org/10.36290/int.2018.003
https://doi.org/10.36290/int.2018.003
Autor:
Lubor Goláň
Publikováno v:
Interní medicína pro praxi. 19:167-170
Fabryho choroba je dědicne onemocněni s multiorganovým postiženim. Specificka lecba doposud spocivala pouze v intravenozni nahraděchybějiciho enzymu alfa-galaktosidazy A. V brzke době se na nasem trhu objevi peroralni lecba migalastatem. Lek j
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a108db74da4de40b88b289e01dd60ad
https://doi.org/10.36290/int.2017.028
https://doi.org/10.36290/int.2017.028
Autor:
Giulia Bortolussi, Libor Vítek, Aleš Linhart, Alena Jiraskova, Lenka Eremiášová, Vilém Danzig, Gabriela Dostálová, Lubor Goláň
Publikováno v:
Oxidative Medicine and Cellular Longevity, Vol 2017 (2017)
The aim of our study was to assess the possible relationships among heme oxygenase (HMOX), bilirubin UDP-glucuronosyl transferase (UGT1A1) promoter gene variations, serum bilirubin levels, and Fabry disease (FD). The study included 56 patients with F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8dc04acccdc82e6729a1d3e16ef6ec
https://doi.org/10.1155/2017/9478946
https://doi.org/10.1155/2017/9478946
Autor:
Jana Ledvinová, Robert Dobrovolný, Helena Poupětová, Jana Keslová-Veselíková, Befekadu Asfaw, Lubor Goláň, Jakub Sikora, Helena Hůlková, Milan Elleder, Linda Berná
Publikováno v:
Virchows Archiv
The function and intracellular delivery of enzyme therapeutics for Fabry disease were studied in cultured fibroblasts and in the biopsied tissues of two male patients to show diversity of affected cells in response to treatment. In the mutant fibrobl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfddc2367ed0c42db197b2af70c1729e
https://doi.org/10.1007/s00428-008-0586-9
https://doi.org/10.1007/s00428-008-0586-9
Autor:
Jacek Musiał, Lubor Goláň, Ozlem Goker-Alpan, Bojan Vujkovac, Johanna Kuusisto, Ikka Kantola, Peter Chang, Reena Sharma, Anna Wijatyk, Derlis Gonzalez-Rodriguez, Mariusz Klopotowski, Myrl Holida, Aleš Linhart, Kathleen Nicholls
Publikováno v:
Drug Design, Development and Therapy
Lubor GoláÅ,1 Ozlem Goker-Alpan,2 Myrl Holida,3 Ikka Kantola,4 Mariusz Klopotowski,5 Johanna Kuusisto,6 Aleš Linhart,1 Jacek Musial,7 Kathleen Nicholls,8 Derlis Gonzalez-Rodriguez,9 Reena Sharma,10 Bojan Vujkovac,11 Peter Chang,12 Anna Wijatyk12
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::887a6ba3e507b2283592c0ee1bbbce4d
https://ruj.uj.edu.pl/xmlui/handle/item/125208
https://ruj.uj.edu.pl/xmlui/handle/item/125208
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0170881 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0166290.].
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a54f345168cbe7b04f12a7613076b87
https://doi.org/10.1371/journal.pone.0170881
https://doi.org/10.1371/journal.pone.0170881