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Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

Hu, Liyan ; Pandey, Amit ; Balmer, Cécile ; Eggimann, Sandra ; Rüfenacht, Véronique ; Nuoffer, Jean-Marc ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 815-827

Consortium of Swiss Academic Libraries

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in - vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

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

In: Journal of Inherited Metabolic Disease, 2012, vol. 35, no. 1, p. 133-140

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