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Last Updated: 10/31/2025
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Found 544 publications
Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology.
Journal: Molecular genetics and metabolism reports
Published: May 29, 2025
Liver transplantation in late-onset ornithine transcarbamylase deficiency with acute liver failure: A case report.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: March 12, 2025
New Diagnosis of Ornithine Transcarbamylase Deficiency in a 71-Year-Old Man.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: February 24, 2025
Undiagnosed partial ornithine transcarbamylase deficiency presenting as recurrent hyperammonaemic encephalopathy after capecitabine administration.
Journal: BMJ case reports
Published: January 08, 2025
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes.
Journal: Molecular genetics and metabolism
Published: January 03, 2025
Hyperammonemic Encephalopathy due to Underlying Ornithine Transcarbamylase Deficiency.
Journal: Annals of Indian Academy of Neurology
Published: December 14, 2024
Maternal and Newborn Care for Ornithine Transcarbamylase Deficiency.
Journal: MCN. The American journal of maternal child nursing
Published: December 03, 2024
Maternal and Newborn Care for Ornithine Transcarbamylase Deficiency.
Journal: MCN. The American journal of maternal child nursing
Published: December 03, 2024
Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.
Journal: Postepy psychiatrii neurologii
Published: November 17, 2024
Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review.
Journal: Postepy psychiatrii neurologii
Published: November 17, 2024
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.
Journal: Orphanet journal of rare diseases
Published: September 23, 2024
Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.
Journal: Neurology. Genetics
Published: August 26, 2024
Last Updated: 10/31/2025