Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Bernd C Schwahn"'
Autor:
Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
Publikováno v:
Redox Biology, Vol 58, Iss , Pp 102517- (2022)
Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by studying patients with respective genetic defects. We analyzed sulfur compounds (including
Externí odkaz:
https://doaj.org/article/c104284c656d4baba6f0fc3dc95350b4
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101104- (2024)
Several disorders of energy metabolism have been treated with exogenous ketone bodies. The benefit of this treatment is best documented in multiple acyl-CoA dehydrogenase deficiency (MADD) (MIM#231680). One might also expect ketone bodies to help in
Externí odkaz:
https://doaj.org/article/32f54e43788e41bc887af62801f681ab
Autor:
Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 3-10 (2020)
Abstract CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioni
Externí odkaz:
https://doaj.org/article/84539154ffee4aaaab416f986c502c2b
Autor:
Rebecca Halligan, Saikat Santra, F.J. White, Charlotte Dawson, Helen Mundy, Nazreen Banu Kamarus Jaman, Joanna Gribben, Katherine Lewis, David Cregeen, Mel McSweeney, Steve Kitchen, Bernd C. Schwahn, Karolina M. Stepien
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 52-59 (2021)
JIMD Reports
JIMD Reports
Glycogen storage disease type Ib (GSDIb) is characterized by hepatomegaly and fasting hypoglycaemia as well as neutropaenia and recurrent infections. We conducted a retrospective observational study on a cohort of patients with GSDIb across England.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b54bb51005d25aeda438c68a8e91480
https://doaj.org/article/90f760d60ce44f528516665b5bb177a9
https://doaj.org/article/90f760d60ce44f528516665b5bb177a9
Autor:
Bernd C. Schwahn, Gerard T. Berry, Saikat Santra, Hilary Vernon, Hong Li, J. Lawrence Merritt, Manuel Schiff, Brigitte Chabrol, Javier De las Heras, Jerry Vockley, Chung Lee, Dwight Koeberl, Barbara Burton, Stephanie Grunewald, Thomas Morgan, George Diaz, Can Ficicioglu, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo
Publikováno v:
Molecular Genetics and Metabolism. 138:107476
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d98e19219ff55e05aaaa43b72e7a2355
https://doi.org/10.1016/j.ymgme.2023.107476
https://doi.org/10.1016/j.ymgme.2023.107476
Autor:
Manuel Schiff, Bernd C. Schwahn, Brigitte Chabrol, J. Lawrence Merritt, Jerry Vockley, Hilary Vernon, Gerard T. Berry, Saikat Santra, Chung Lee, Dwight Koeberl, Hong Li, Barbara Burton, Javier De las Heras, George Diaz, Mariana Faria-Urbina, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo
Publikováno v:
Molecular Genetics and Metabolism. 138:107475
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2becc8fbe21f519d92c16a7196b660af
https://doi.org/10.1016/j.ymgme.2023.107475
https://doi.org/10.1016/j.ymgme.2023.107475
Autor:
Guenter Schwarz, Bernd C. Schwahn
Publikováno v:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6702f6c661fa8d760c436c6c7a81eecc
https://doi.org/10.1007/978-3-030-67727-5_35
https://doi.org/10.1007/978-3-030-67727-5_35
Autor:
Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, Pilar Tobajas Morlana, Alina Levtova, Bernd C. Schwahn, Corinne DeLaet, Baiba Lace, Paulino Gómez-Puertas, Juan Pié
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 4, p 1010 (2018)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mitochondrial HMG-CoA synthase deficiency or mHS deficiency, OMIM #605911) is an inborn error of metabolism that affects ketone body synthesis. Acute episodes include vomiting, letharg
Externí odkaz:
https://doaj.org/article/e1c6e285adbc4e31a61a18d015ba2cb1
Autor:
Dietrich Michalk, Eckhard Schönau, Wiebke Ahrens, Oliver Andres, Hansjosef Böhles, Jürgen H. Brämswig, Ulrich Brandl, Max Braun, Rolf Brenner, Ilse Julia Broekaert, Rainer Büscher, Sebahattin Cirak, Roman Crazzolara, Michael Diestelhorst, Sven Dittrich, Manfred Döpfner, Martin Dübbers, Ibrahim Duran, Stefan Eber, Frank Eifinger, Mathias Emmel, Udo H. Engelmann, Simon U. Engelmann, Oliver Fricke, Gerd Ganser, Alexander von Gontard, Isabelle Graf, Annette Grüters-Kieslich, Rainer Haak, Kathi Hartmann, Berthold P. Hauffa, Ulrich Heininger, Peter Herkenrath, Gerhard Hesse, Michael Hofbeck, Reinhard Holl, Martin Holtmann, Bernd Hoppe, Heike Hoyer-Kuhn, Christoph Hünseler, Hans-Iko Huppertz, Karl-Bernd Hüttenbrink, Klaus-Michael Keller, Sebastian Kerzel, Jan Kirschner, Martin Kirschstein, Günter Klaus, Berthold Koletzko, Sibylle Koletzko, Martin Kömhoff, Martin Konrad, Robert W. Körner, Eberhard Kuwertz-Bröking, Christof Land, Pablo Landgraf, Hans-Jürgen Laws, Michael J. Lentze, Christoph Licht, Esther Lowden, Johannes Luckhaus, Kyriakos Martakis, Klaus Mohnike, Tim Niehues, Eva Nüsken, Kai-Dietrich Nüsken, Walter Nützenadel, Ekkehart Paditz, Karl Paul-Buck, Uwe Querfeld, Michael B. Ranke, Wolfgang Rascher, Mirko Rehberg, Frank Riedel, Max J. Scheyerer, Gerhard Schmalz, David Schorling, Bernd C. Schwahn, Tobias Schwarz, Lothar Schweigerer, Hannsjörg Seyberth, Thorsten Simon, Gernot H.G. Sinnecker, Stephan Sollberg, Wolfgang Sperl, Georg Mathias Sprinzl, Narayanswami Sreeram, Anne Kathrin Striegel, Verena Strunz, Martin Wabitsch, Siegfried Waldegger, Martin Walger, Hasso von Wedel, Michael Weiß, Thomas Wiesner, Stefan Wirth, Ayla Yagdiran, Joachim E. Zöller, T. Zuberbier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::997b79179aee47415c0a69d8eaf9d8a2
https://doi.org/10.1016/b978-3-437-22533-8.00128-8
https://doi.org/10.1016/b978-3-437-22533-8.00128-8