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Nuoffer, Jean-Marc; Mullis, P. E.; Wiesmann, U. N. (1997). Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. Journal of inherited metabolic disease, 20(6), pp. 790-798. Kluwer Academic Publishers 10.1023/a:1005319818015
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
Nuoffer, Jean-Marc; Pfammatter, Jean-Pierre; Spahr, A.; Toplak, H.; Wanders, R. J. A.; Schutgens, R. B. H.; Wiesmann, U. N. (1994). Chondrodysplasia punctata with a mild clinical course. Journal of inherited metabolic disease, 17(1), pp. 60-66. Springer 10.1007/bf00735395
