Ornithine Transcarbamylase Deficiency Latest Advances
Find the Latest Research About Ornithine Transcarbamylase Deficiency
Last Updated: 04/28/2026
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Found 555 publications
A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.
Journal: Clinical case reports
Published: December 06, 2025
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
Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.
Journal: BMC pediatrics
Published: November 14, 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
Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review.
Journal: Metabolic brain disease
Published: October 29, 2025
Analysis of OTC Gene Variations in Early-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Review of the Literature.
Journal: Journal of paediatrics and child health
Published: October 15, 2025
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.
Journal: JIMD reports
Published: August 06, 2025
Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report.
Journal: Radiation oncology journal
Published: July 17, 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
Last Updated: 04/28/2026