CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report

Mutations and polymorphisms in the human ornithine transcarbamylase (<i>OTC</i>) gene

Saori Yamaguchi, Lisa L. Brailey, Hiroki Morizono et al. · Human Mutation · 2006 · 275 citations

Life Sciences, Genetics, Molecular Genetics +16

Evidence for X-Linked Dominant Inheritance of Ornithine Transcarbamylase Deficiency

Elizabeth M. Short, Harold O. Conn, Philip J. Snodgrass et al. · New England Journal of Medicine · 1973 · 129 citations

Life Sciences, Genetics, Pediatrics +17

Late-onset ornithine transcarbamylase deficiency in male patients

Janice E. Finkelstein, Elizabeth R. Hauser, Claire O. Leonard et al. · The Journal of Pediatrics · 1990 · 114 citations

Life Sciences, Endocrinology, Neurology +7

Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Markus Grompe, C. Thomas Caskey, Raymond G. Fenwick · PubMed · 1991 · 70 citations

Life Sciences, Biochemistry, Molecular Biology +13

Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.

B. E. Kendall, D. P. E. Kingsley, James V. Leonard et al. · Journal of Neurology Neurosurgery & Psychiatry · 1983 · 62 citations · Full text

Medicine, Neurology, Pediatrics +12