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Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of inherited metabolic disease, 35(1), pp. 133-40. Lancaster, UK: Springer Netherlands 10.1007/s10545-011-9357-x
Engel, Katharina; Nuoffer, Jean-Marc; Mühlhausen, Chris; Klaus, Vera; Largiadèr, Carlo R; Tsiakas, Konstantinos; Santer, René; Wermuth, Bendicht; Häberle, Johannes (2008). Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Molecular genetics and metabolism, 94(3), pp. 292-7. Amsterdam: Elsevier 10.1016/j.ymgme.2008.03.009
