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Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria by Matthew C. S. Denley, Monique S. Straub, Giulio Marcionelli, Miriam A. Güra, David Penton, Igor Delvendahl, Martin Poms, Beata Vekeriotaite, Sarah Cherkaoui, Federica Conte, Ferdinand von Meyenn, D. Sean Froese, Matthias R. Baumgartner
Published 2025-03-01Get full text
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A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system by Stuti Bakshi, Taryn Diep, Brandon J. Willis, Rachel Reyes, Grace F. Wu, Georgios Makris, Martin Poms, Isabel Day, Qin Sun, Irina Zhuravka, Lindsay Lueptow, Michelle Tang, Gareth A. Cromie, Aimée M. Dudley, Johannes Häberle, Gerald S. Lipshutz
Published 2025-07-01Get full text
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Characterization and treatment monitoring of ureagenesis disorders using stable isotopes by Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann, Déborah Mathis, Beat Thöny, Matthias Gautschi, Ralf A. Husain, Daniela Karall, Karolina Orchel-Szastak, Francesco Porta, Dominique Roland, Barbara Siri, Carlo Dionisi-Vici, René Santer, Johannes Häberle
Published 2025-05-01Get full text
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