Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ludmila, Kostalova"'
Autor:
Katarina Jurickova, Petra Jungova, Robert Petrovic, Slavomira Mattosova, Tereza Hlavata, Ludmila Kostalova, Anna Hlavata
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 922
Fabry disease (FD, OMIM#301500) is a rare inborn error of the lysosomal enzyme α-galactosidase (α-Gal A, EC 3.2.1.22) and results in progressive substrate accumulation in tissues with a wide range of clinical presentations. Despite the X-linked inh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b160d9ddd02c9c785984233ebc129da2
https://pubmed.ncbi.nlm.nih.gov/35743707
https://pubmed.ncbi.nlm.nih.gov/35743707
Autor:
Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T. H., Netchine I., Mastorakos G., Johannsson G., Musholt T. J., Zenker M., Prawitt D., Pereira A. M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)
Eggermann, T, Elbracht, M, Kurth, I, Juul, A, Johannsen, T H, Netchine, I, Mastorakos, G, Johannsson, G, Musholt, T J, Zenker, M, Prawitt, D, Pereira, A M, Hiort, O & European Reference Network on Rare Endocrine Conditions (ENDO-ERN 2020, ' Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) ', Orphanet Journal of Rare Diseases, vol. 15, 144 . https://doi.org/10.1186/s13023-020-01420-w
Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)
Eggermann, T, Elbracht, M, Kurth, I, Juul, A, Johannsen, T H, Netchine, I, Mastorakos, G, Johannsson, G, Musholt, T J, Zenker, M, Prawitt, D, Pereira, A M, Hiort, O & European Reference Network on Rare Endocrine Conditions (ENDO-ERN 2020, ' Genetic testing in inherited endocrine disorders : joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) ', Orphanet Journal of Rare Diseases, vol. 15, 144 . https://doi.org/10.1186/s13023-020-01420-w
Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w
Published by BioMed Central, London
Published by BioMed Central, London
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bcdab9c1079b70ef2ccebfd8d9b677
Publikováno v:
Case Reports in Endocrinology, Vol 2013 (2013)
McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed
Externí odkaz:
https://doaj.org/article/7a5dca7fc76944aaa3bd01c9c1488899
Autor:
Lubica, Kovacikova, Pavol, Kunovsky, Miroslav, Lakomy, Peter, Skrak, Zelmira, Misikova, Jaroslav, Siman, Ludmila, Kostalova, Eva, Tomeckova
Publikováno v:
Endocrine regulations. 37(1)
The aim of this prospective study was to examine whether providone-iodine used for sternal wound protection in infants with delayed sternal closure (DSC) influences the thyroid function.Thyroid hormones (see bellow) and thyroxine binding globulin (TB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d4f48db14a37735e272fbac90816609
https://pubmed.ncbi.nlm.nih.gov/12916317
https://pubmed.ncbi.nlm.nih.gov/12916317
Quantifying adherence to growth hormone treatment: the easypodTM connect observational study (ECOS).
Autor:
Peter Davies, Ho-Seong Kim, Martin Borkenstein, Minlian Du, Jeremy Kirk, Ludmila Kostalova, Jan Lebl, Sandro Loche, Andrea Luczay, Marc Nicolino, Svante Norgren, Dolores Rodriguez Arnao, John Vandermeulen, Christoph Gasteyger, Jürgen Zieschang, Monia Zignani
Publikováno v:
International Journal of Pediatric Endocrinology; 2013, Vol. 2013 Issue Suppl 1, p1-1, 1p