Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
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M. Durán | E. Bakker | B. Poll-The | J. Smeitink | M. Ausems | F. Beemer | L. Dorland | H. D. de Valk | R. Berger | J. Keulemans | O. V. van Diggelen | P. Eskes | A. Kneppers | Lambertus Dorland | B. Poll‐The | Marinus Duran | Egbert Bakker | O. P. V. Diggelen | M. Ausems | F. A. Beemer | Ruud Berger | H. W. D. Valk | J. A. Smeitink