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Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria Denley, Matthew C. S.; Straub, Monique S.; Marcionelli, Giulio; Gura, Miriam A.; Penton, David; Delvendahl, Igor; Poms, Martin; Vekeriotaite, Beata; Cherkaoui, Sarah; Conte, Federica; von Meyenn, Ferdinand; Froese, D. Sean; Baumgartner, Matthias R. 分享 收藏
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The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear Knopfli, Stella; Goeschl, Bernadette; Zeyda, Maximilian; Baghdasaryan, Anna; Baumgartner-Kaut, Margot; Baumgartner, Matthias R.; Herle, Marion; Margreitter, Julian; Poms, Martin; Wortmann, Saskia B.; Konstantopoulou, Vassiliki; Huemer, Martina 分享 收藏
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria Lucienne, Marie; Gerlini, Raffaele; Rathkolb, Birgit; Calzada-Wack, Julia; Forny, Patrick; Wueest, Stephan; Kaech, Andres; Traversi, Florian; Forny, Merima; Burer, Celine; Aguilar-Pimentel, Antonio; Irmler, Martin; Beckers, Johannes; Sauer, Sven; Koelker, Stefan; Dewulf, Joseph P.; Bommer, Guido T.; Hoces, Daniel; Gailus-Durner, Valerie; Fuchs, Helmut; Rozman, Jan; Froese, D. Sean; Baumgartner, Matthias R.; de Angelis, Martin Hrabe 分享 收藏
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency 整合的多组学揭示了甲基丙二酰辅酶a突变酶缺乏症的回补重布线 Forny, Patrick; Bonilla, Ximena; Lamparter, David; Shao, Wenguang; Plessl, Tanja; Frei, Caroline; Bingisser, Anna; Goetze, Sandra; van Drogen, Audrey; Harshman, Keith; Pedrioli, Patrick G. A.; Howald, Cedric; Poms, Martin; Traversi, Florian; Burer, Celine; Cherkaoui, Sarah; Morscher, Raphael J.; Simmons, Luke; Forny, Merima; Xenarios, Ioannis; Aebersold, Ruedi; Zamboni, Nicola; Ratsch, Gunnar; Dermitzakis, Emmanouil T.; Wollscheid, Bernd; Baumgartner, Matthias R.; Froese, D. Sean 分享 收藏
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12 Oussalah, Abderrahim; Siblini, Youssef; Hergalant, Sebastien; Chery, Celine; Rouyer, Pierre; Cavicchi, Catia; Guerrini, Renzo; Morange, Pierre-Emmanuel; Tregouet, David; Pupavac, Mihaela; Watkins, David; Pastinen, Tomi; Chung, Wendy K.; Ficicioglu, Can; Feillet, Francois; Froese, D. Sean; Baumgartner, Matthias R.; Benoist, Jean-Francois; Majewski, Jacek; Morrone, Amelia; Rosenblatt, David S.; Gueant, Jean-Louis 分享 收藏
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study (vol 11, 19300, 2021) Martner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Grunert, Sarah C.; Kramer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Nake, Andrea; Hoffmann, Georg F.; Muhlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Kolker, Stefan; Boy, Nikolas 分享 收藏
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan; Boy, Nikolas 分享 收藏
Persistence of immunity to SARS-CoV-2 over time in the ski resort Ischgl Borena, Wegene; Banki, Zoltan; Bates, Katie; Winner, Hannes; Riepler, Lydia; Roessler, Annika; Pipperger, Lisa; Theurl, Igor; Falkensammer, Barbara; Ulmer, Hanno; Walser, Andreas; Pichler, Daniel; Baumgartner, Matthias; Schoenherr, Sebastian; Forer, Lukas; Knabl, Ludwig; Wuerzner, Reinhard; von Laer, Dorothee; Paetzold, Joerg; Kimpel, Janine 分享 收藏
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Marked Increase in Avidity of SARS-CoV-2 Antibodies 7-8 Months After Infection Is Not Diminished in Old Age Pichler, Daniel; Baumgartner, Matthias; Kimpel, Janine; Roessler, Annika; Riepler, Lydia; Bates, Katie; Fleischer, Verena; von Laer, Dorothee; Borena, Wegene; Wuerzner, Reinhard 分享 收藏
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders Posset, Roland; Garbade, Sven F.; Gleich, Florian; Gropman, Andrea L.; de Lonlay, Pascale; Hoffmann, Georg F.; Garcia-Cazorla, Angeles; Nagamani, Sandesh C. S.; Baumgartner, Matthias R.; Schulze, Andreas; Dobbelaere, Dries; Yudkoff, Marc; Koelker, Stefan; Zielonka, Matthias 分享 收藏
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency (vol 11, 970, 2020) Luciani, Alessandro; Schumann, Anke; Berquez, Marine; Chen, Zhiyong; Nieri, Daniela; Failli, Mario; Debaix, Huguette; Festa, Beatrice Paola; Tokonami, Natsuko; Raimondi, Andrea; Cremonesi, Alessio; Carrella, Diego; Forny, Patrick; Kolker, Stefan; Camassei, Francesca Diomedi; Diaz, Francisca; Moraes, Carlos T.; Di Bernardo, Diego; Baumgartner, Matthias R.; Devuyst, Olivier 分享 收藏
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency Luciani, Alessandro; Schumann, Anke; Berquez, Marine; Chen, Zhiyong; Nieri, Daniela; Failli, Mario; Debaix, Huguette; Festa, Beatrice Paola; Tokonami, Natsuko; Raimondi, Andrea; Cremonesi, Alessio; Carrella, Diego; Forny, Patrick; Koelker, Stefan; Diomedi Camassei, Francesca; Diaz, Francisca; Moraes, Carlos T.; Di Bernardo, Diego; Baumgartner, Matthias R.; Devuyst, Olivier 分享 收藏
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