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Mathis, Déborah; Koch, Jasmine; Koller, Sophie; Sauter, Kay; Flück, Christa; Uldry, Anne-Christine; Forny, Patrick; Froese, D Sean; Laemmle, Alexander (2024). Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency. Molecular genetics and metabolism reports, 39(101066) Elsevier 10.1016/j.ymgmr.2024.101066
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A; Seifert, Burkhardt; Froese, D Sean; Baumgartner, Matthias R; Dionisi-Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana; Blasco-Alonso, Javier; Boy, Nikolas; Bueno, Maria; Burgos Peláez, Rosa; ... (2019). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. Journal of inherited metabolic diseases, 42(2), pp. 333-352. Wiley 10.1002/jimd.12041
