Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation

O. P. Van Diggelen*, J. Zaremba, Wang He, J. L.M. Keulemans, A. M. Boer, A. J.J. Reuser, M. G.E.M. Ausems, J. A.M. Smeitink, J. Kowalczyk, E. Pronicka, D. Rokicki, E. Tarnowska-Dziduszko, A. L.J. Kneppers, E. Bakker

*Corresponding author for this work

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