... this article as: Pinner et al.: Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of ... was the managing clinician at presentation, and EK the physician continuing care All the authors read and approved the final manuscript Competing interests The authors declare that they have ... Uematsu A, Tanaka K, Kiwaki K, Endo F, Matsuda I, Nagasaka H, Furusho K: X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency Clinical...