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Last Updated: 01/07/2026
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Found 549 publications
A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy.
Journal: Internal medicine (Tokyo, Japan)
Published: November 30, 2025
Rebound hyperammonemia triggered by interruption of renal replacement therapy in adolescent ornithine transcarbamylase deficiency.
Journal: The journal of medical investigation : JMI
Published: November 03, 2025
Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report.
Journal: Translational pediatrics
Published: June 29, 2025
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
Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case.
Journal: Journal of neurosurgery. Case lessons
Published: May 08, 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
Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD).
Journal: Journal of patient-reported outcomes
Published: January 17, 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
Last Updated: 01/07/2026