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Last Updated: 01/07/2026

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Found 2679 publications

A 71-year-old woman with adult-onset type II citrullinemia, initially presenting with normal blood ammonia levels

A 71-year-old woman with adult-onset type II citrullinemia, initially presenting with normal blood ammonia levels

Journal: Rinsho shinkeigaku = Clinical neurology
Published: December 10, 2025

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy.

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

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Journal: Journal of child neurology
Published: November 12, 2025

Rebound hyperammonemia triggered by interruption of renal replacement therapy in adolescent ornithine transcarbamylase deficiency.

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

Hyperammonemia in Inherited Metabolic Diseases: A Case Report.

Hyperammonemia in Inherited Metabolic Diseases: A Case Report.

Journal: Cureus
Published: October 13, 2025

Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Severe Neurological Sequelae and Radiological Findings in a Lost-to-Follow-Up Case of Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Journal: Cureus
Published: October 01, 2025

An Unusual Cause of Hyperammonaemia and Acute Liver Failure in a Toddler.

An Unusual Cause of Hyperammonaemia and Acute Liver Failure in a Toddler.

Journal: Gastroenterology
Published: September 29, 2025

A Possible Case of Acquired Urea Cycle Disorder in a Critical Care Patient.

A Possible Case of Acquired Urea Cycle Disorder in a Critical Care Patient.

Journal: Cureus
Published: September 19, 2025

Potent Liver-Tropic mRNA Lipid Nanoparticles: ApoE-Mediated Delivery Through a Low-Density Lipoprotein Receptor Independent Uptake Mechanism.

Potent Liver-Tropic mRNA Lipid Nanoparticles: ApoE-Mediated Delivery Through a Low-Density Lipoprotein Receptor Independent Uptake Mechanism.

Journal: Advanced materials (Deerfield Beach, Fla.)
Published: September 11, 2025

Persistent Hyperammonemia and Cerebral Edema Following Gastrostomy Tube Placement in a Post-bariatric Patient: A Diagnostic Dilemma.

Persistent Hyperammonemia and Cerebral Edema Following Gastrostomy Tube Placement in a Post-bariatric Patient: A Diagnostic Dilemma.

Journal: Cureus
Published: August 24, 2025

Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder

Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: August 20, 2025

Partial Ornithine Transcarbamylase (OTC) Deficiency.

Partial Ornithine Transcarbamylase (OTC) Deficiency.

Journal: Indian journal of pediatrics
Published: August 18, 2025
Showing 1-12 of 2,679

Last Updated: 01/07/2026