Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Mariusz, Ołtarzewski"'
Autor:
Anette-Gabriele Ziegler, Kristina Casteels, Olga Kordonouri, Helena Elding Larsson, Markus Lundgren, Agnieszka Szypowska, Ezio Bonifacio, Christiane Winkler, Rachel Besser, Andreas Weiss, Mariusz Ołtarzewski, John A. Todd, An Jacobs, Angela Hommel, Maarten Warnants, Veronika Vollmuth, Thekla von dem Berge, Marie-Luise Zielmann
Publikováno v:
BMJ Paediatrics Open, Vol 8, Iss 1 (2024)
Background Vitamin D insufficiency (VDI) may be a factor in the development of type 1 diabetes (T1D). The aim of this study is to investigate the presence and persistence of VDI in a large cohort of infants with increased risk of developing T1D, in l
Externí odkaz:
https://doaj.org/article/d3fa13efdd5949fca90b91f0059c3935
Autor:
Dorota Filipowicz, Ewelina Szczepanek-Parulska, Aniceta A. Mikulska-Sauermann, Marta Karaźniewicz-Łada, Franciszek K. Główka, Krzysztof Szymanowski, Mariusz Ołtarzewski, Lutz Schomburg, Marek Ruchała
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionIodine is a pivotal component of thyroid hormones, and its deficiency leads to negative pregnancy outcomes. Therefore, during gestation, additional iodine supplementation is recommended.ObjectivesBy evaluating a group of women from wester
Externí odkaz:
https://doaj.org/article/a7907a918dda4eef8652ec9b731217c5
Autor:
Katarzyna Zybert, Urszula Borawska-Kowalczyk, Lukasz Wozniacki, Malwina Dawidziuk, Mariusz Ołtarzewski, Dorota Sands
Publikováno v:
Jornal de Pediatria, Vol 98, Iss 4, Pp 419-424 (2022)
Objective: To present signs and symptoms and clinical course in cystic fibrosis patients with false-negative newborn screening (CF NBS). Materials and methods: All children presented in this paper were covered by CF NBS. The group of 1.869.246 newbor
Externí odkaz:
https://doaj.org/article/6b1e6c8eb58747399ac5347c54ad51c5
Autor:
Elżbieta Lipska, Agnieszka Lecka-Ambroziak, Daniel Witkowski, Katarzyna Szamotulska, Ewa Mierzejewska, Mariusz Ołtarzewski
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Worldwide neonatal screening for congenital hypothyroidism (CH) is a gold standard of active surveillance in newborns. Prompt diagnosis, subsequent timely treatment implementation, and proper dosage of levothyroxine (L-T4) are crucial for normal grow
Externí odkaz:
https://doaj.org/article/fbc3a2d2b4b14ffc93be55aeeaf96c48
Autor:
Matthew D Snape, Melanie Gündert, Anette-Gabriele Ziegler, Peter Achenbach, Reinhard Berner, Kristina Casteels, Thomas Danne, Joerg Hasford, Olga Kordonouri, Karin Lange, Helena Elding Larsson, Markus Lundgren, Agnieszka Szypowska, John A Todd, Ezio Bonifacio, Nicole Zubizarreta, Christiane Winkler, Åke Lernmark, Daniel Agardh, Cigdem Gezginci, Claudia Ramminger, Marlon Scholz, Katharina Warncke, Carin Andrén Aronsson, Rasmus Bennet, Lina Fransson, Zeliha Mestan, Caroline Nilsson, Anita Ramelius, Carina Törn, Sarah Hogg, Catherine Owen, Lidia Groele, Florian Haupt, Claudia Matzke, Robin Assfalg, Matthew Snape, Felix Reschke, Marcin L Pekalski, Andreas Weiss, Andrew Johnston, Manja Jolink, Loredana Marcovecchio, Mariusz Ołtarzewski, Stefanie Arnolds, Annika Kölln, Markus Pfirrmann, Corinna Barz, Karina Blasius, Nadine Friedl, Adriano Gomez-Bantel, Martin Heigermoser, Bianca Höfelschweiger, Nadine Klein, Ramona Lickert, Rebecca Niewöhner, Katharina Schütte-Borkovec, Mira Taulien, Lara Vogel, Franziska Voß, José Maria Zapardiel Gonzalo, Philipp Sifft, Heidi Kapfelsberger, Merve Vurucu, Katharina Sarcletti, Stefanie Jacobson, Yulia Grinin, John A. Todd, Anette-G. Ziegler, Marcin L. Pekalski, Anette G. Ziegler, Annre Rochtus, An Jacobs, Hilde Morobé, Jasmin Paulus, Brontë Vrancken, Natalie Van den Driessche, Renka Van Heyste, Janne Houben, Veerle Vanhuyse, Sevina Dietz, Gita Gemulla, Manja Gottschalk-Schwarz, Sophie Heinke, Angela Hommel, Susann Kowal, Fabian Lander, Robert Morgenstern, Marc Weigelt, Sari Arabi, Raphael Hoffmann, Ruth Blechschmidt, Franziska Ehrlich, Anja Loff, Laura Galuschka, Ute Holtkamp, Nils Janzen, Sarah Landsberg, Erika Marquardt, Frank Roloff, Kerstin Semler, Thekla von dem Berge, Melanie Bunk, Simone Färber-Meisterjahn, Willi Grätz, Ines Greif, Melanie Herbst, Anna Hofelich, Benjamin Marcus, Annette Munzinger, Jasmin Ohli, Franziska Reinmüller, Tiziana Welzhofer, Sylwia Dybkowska, Katarzyna Dżygało, Dorota Owczarek, Katarzyna Popko, Agnieszka Skrobot, Anna Taczanowska, Beata Zduńczyk, Charlotte Brundin, Ida Jönsson, Sara Maroufkhani, Evelyn Tekum Amboh, Katarzyna Gajewska-Knapik, Elena Romero, Suzannah Twiss, Helen Gallon, Laura Gebbie, Fiona Jenkinson, Steven Pratt, Steve Robson, Claire Simmister, Evelyn Thomson, Eileen Walton
Publikováno v:
BMJ Open, Vol 11, Iss 11 (2021)
Introduction The Global Platform for the Prevention of Autoimmune Diabetes-SINT1A Study is designed as a randomised, placebo-controlled, double-blind, multicentre, multinational, primary prevention study aiming to assess whether daily administration
Externí odkaz:
https://doaj.org/article/32b6df3b92764c4e9ef877d2ae7501a4
Autor:
Maria Giżewska, Katarzyna Durda, Theresa Winter, Iwona Ostrowska, Mariusz Ołtarzewski, Jeannette Klein, Oliver Blankenstein, Hanna Romanowska, Elżbieta Krzywińska-Zdeb, Michał Filip Patalan, Elżbieta Bartkowiak, Natalia Szczerba, Stefan Seiberling, Bożena Birkenfeld, Matthias Nauck, Horst von Bernuth, Christian Meisel, Ewa Anna Bernatowska, Mieczysław Walczak, Małgorzata Pac
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency d
Externí odkaz:
https://doaj.org/article/ecc1ba82e63e4ae2b75a048aab8bf21f
Autor:
Magdalena Chełchowska, Joanna Gajewska, Jadwiga Ambroszkiewicz, Joanna Mazur, Mariusz Ołtarzewski, Tomasz M. Maciejewski
Publikováno v:
Antioxidants, Vol 10, Iss 12, p 1866 (2021)
Glutathione plays a key role in maintaining a physiological balance between prooxidants and antioxidants in the human body. Therefore, we examined the influence of maternal smoking as a source of oxidative stress measured by total oxidant capacity (T
Externí odkaz:
https://doaj.org/article/6f0dd054b90745cf975314b561d03658
Autor:
Szymon Piątek, Iwona Szymusik, Anna Dańska-Bidzińska, Mariusz Ołtarzewski, Gabriela Trojan, Mariusz Bidziński
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 16; Pages: 4761
Uterine sarcomas occur very rarely in young women. Hysterectomy, which is a standard treatment, may not be acceptable for those patients, especially nulliparous women. Fertility-sparing management may be an alternative. The aim of the study was to as
Autor:
Aleksandra Jezela-Stanek, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska, Kamila Czerska, Katarzyna Kuśmierska, Joanna Taybert, Mariusz Ołtarzewski, Jolanta Sykut-Cegielska
Publikováno v:
Genes; Volume 13; Issue 5; Pages: 802
Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not
Autor:
Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev