Zobrazeno 1 - 10
of 991
pro vyhledávání: '"Georg F. Hoffmann"'
Autor:
Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited me
Externí odkaz:
https://doaj.org/article/e200e6208cf9442cbf0392820af77732
Autor:
Michele Zoch, Christian Gierschner, Anne-Katrin Andreeff, Elisa Henke, Martin Sedlmayr, Gabriele Müller, Jenny Tippmann, Helge Hebestreit, Daniela Choukair, Georg F. Hoffmann, Fleur Fritz-Kebede, Nicole Toepfner, Reinhard Berner, Stephanie Biergans, Raphael Verbücheln, Jannik Schaaf, Julia Fleck, Felix Nikolaus Wirth, Josef Schepers, Fabian Prasser
Publikováno v:
Digital Health, Vol 10 (2024)
Objective Unlocking the potential of routine medical data for clinical research requires the analysis of data from multiple healthcare institutions. However, according to German data protection regulations, data can often not leave the individual ins
Externí odkaz:
https://doaj.org/article/6640c4e05bff445292a3e4d25a2ab079
Autor:
Daniela Choukair, Christian Patry, Ronny Lehmann, Dorothea Treiber, Georg F. Hoffmann, Corinna Grasemann, Normi Bruck, Reinhard Berner, Peter Burgard, Hanns-Martin Lorenz, Burkhard Tönshoff
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-10 (2024)
Abstract Background A structured transition of adolescents and young adults with chronic autoinflammatory and autoimmune disorders from the pediatric to the adult health care system is important. To date, data on the time, processes, outcome, resourc
Externí odkaz:
https://doaj.org/article/e060731c79c141da8b3141310fccb4e5
Autor:
Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F. Hoffmann, Siegmund Köhler, Christian Staufner
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 246-251 (2023)
Abstract Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene affecting the Sec39 domain are associated with a predominant hepatic phenotype named infantile liver failure syndrome type 2 (ILFS2). Individuals are at risk o
Externí odkaz:
https://doaj.org/article/a50822111df74a72b7557ea6415966c6
Autor:
Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Purpose The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the context of rare diseases (RDs
Externí odkaz:
https://doaj.org/article/ef5f9b76b7484569ab9e82d3e5536374
Autor:
Julian Schröter, Tal Dattner, Jennifer Hüllein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffmann, Stefan Kölker, Dominic Lenz, Thomas Opladen, Bernt Popp, Christian P. Schaaf, Christian Staufner, Steffen Syrbe, Sebastian Uhrig, Daniel Hübschmann, Heiko Brennenstuhl
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1077-1083 (2023)
The widespread use of high-throughput sequencing techniques is leading to a rapidly increasing number of disease-associated variants of unknown significance and candidate genes. Integration of knowledge concerning their genetic, protein as well as fu
Externí odkaz:
https://doaj.org/article/31fff396829a4de39c3c03926e275ef4
Autor:
Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 11, Pp 1715-1726 (2022)
Abstract Objective Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate sympto
Externí odkaz:
https://doaj.org/article/80a717ca16474543b1d406f7323ea749
Autor:
Gwendolyn Gramer, Saskia B. Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G. Okun, Holger Prokisch, Thomas Meitinger, Georg F. Hoffmann
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 17 (2024)
Newborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in GSTZ1 underlying maleylacetoacetate isomerase (MAAI) deficien
Externí odkaz:
https://doaj.org/article/3fbaeff2f15a418bae817fb842064df4
Autor:
Pia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, Lina Soueidan, Susanne Hämmerling, Dirk Kohlmüller, Patrik Feyh, Gwendolyn Gramer, Sven F. Garbade, Georg F. Hoffmann, Jürgen G. Okun, Olaf Sommerburg
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 5 (2024)
Newborn screening (NBS) for cystic fibrosis (CF) based on pancreatitis-associated protein (PAP) has been performed for several years. While some influencing factors are known, there is currently a lack of information on the influence of seasonal temp
Externí odkaz:
https://doaj.org/article/e0c6ae699db647dfb9155aa3279b50db
Autor:
Hanna Renk, Alex Dulovic, Alina Seidel, Matthias Becker, Dorit Fabricius, Maria Zernickel, Daniel Junker, Rüdiger Groß, Janis Müller, Alexander Hilger, Sebastian F. N. Bode, Linus Fritsch, Pauline Frieh, Anneke Haddad, Tessa Görne, Jonathan Remppis, Tina Ganzemueller, Andrea Dietz, Daniela Huzly, Hartmut Hengel, Klaus Kaier, Susanne Weber, Eva-Maria Jacobsen, Philipp D. Kaiser, Bjoern Traenkle, Ulrich Rothbauer, Maximilian Stich, Burkhard Tönshoff, Georg F. Hoffmann, Barbara Müller, Carolin Ludwig, Bernd Jahrsdörfer, Hubert Schrezenmeier, Andreas Peter, Sebastian Hörber, Thomas Iftner, Jan Münch, Thomas Stamminger, Hans-Jürgen Groß, Martin Wolkewitz, Corinna Engel, Weimin Liu, Marta Rizzi, Beatrice H. Hahn, Philipp Henneke, Axel R. Franz, Klaus-Michael Debatin, Nicole Schneiderhan-Marra, Ales Janda, Roland Elling
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
In this prospective cohort study, authors follow 328 households in Germany with at least one confirmed SARS-CoV-2 infection and find that children are more likely to seroconvert without symptoms and have higher specific antibody levels that persist l
Externí odkaz:
https://doaj.org/article/af0bd9036d2c4e6cb0fbd39a1d97ce6a