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Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814
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
