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Vella, S.; Steiner, F.; Schlumbom, V.; Zurbrügg, R.; Wiesmann, U. N.; Schaffner, T.; Wermuth, B. (1997). Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. Journal of inherited metabolic disease, 20(4), pp. 517-524. Springer 10.1023/A:1005397329395
