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Allegri, Gabriella; Deplazes, Sereina; Rimann, Nicole; Causton, Benjamin; Scherer, Tanja; Leff, Jonathan W; Diez-Fernandez, Carmen; Klimovskaia, Anna; Fingerhut, Ralph; Krijt, Jakub; Kožich, Viktor; Nuoffer, Jean-Marc; Grisch-Chan, Hiu M; Thöny, Beat; Häberle, Johannes (2019). Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification. Journal of inherited metabolic diseases, 42(6), pp. 1064-1076. Wiley 10.1002/jimd.12068
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
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; Alcalde Martin, C.; Baethmann, M.; Ballhausen, D.; Blasco-Alonso, J.; Boy, N.; Bueno, M.; Burgos Peláez, R.; ... (2018). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry (In Press). Journal of inherited metabolic disease Springer 10.1007/s10545-018-0238-4
