Ornithine Transcarbamylase Deficiency Latest Advances
Find the Latest Research About Ornithine Transcarbamylase Deficiency
Last Updated: 06/30/2026
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Found 558 publications
Fatal Late-Onset Ornithine Transcarbamylase Deficiency in an Adolescent: A Case Report.
Journal: Cureus
Published: April 25, 2026
Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood-onset ornithine transcarbamylase deficiency.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: April 03, 2026
Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.
Journal: Molecular genetics & genomic medicine
Published: January 25, 2026
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
Last Updated: 06/30/2026