Sage Journals: Discover world-class research

Retricted access

Research article

First published 2019-11

Insights into Gene Therapy for Urea Cycle Defects by Mathematical Modeling

Cindy Y. Kok, Sharon C. Cunningham, Philip W. Kuchel [...]

Human Gene Therapy

Open access

Research article

First published 2016-8-26

Defects of the urea cycle

Uta Lichter-Konecki

Translational Science of Rare Diseases

Free access

Case report

First published 2010-5

Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency

Vanessa R Thurlow, Michelle Asafu-Adjaye, Stamatina Agalou [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Other

First published 1998-02

A Urea Cycle Defect Presenting as Acute Cerebellar Ataxia in a 3-Year-Old Girl

Charles Keller, Stuart K. Shapira, Gary D. Clark

Journal of Child Neurology

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Case report

First published 2025-6

Navigating hyperammonemic encephalopathy: Continuous renal replacement therapy in a urea cycle defect secondary to fibrolamellar hepatocellular carcinoma

Mohamed F Mudarres, Benjamin Griffin, Bahjat Azrieh [...]

Journal of Onco-Nephrology

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Research article

First published 2016-10

Hyperammonemia in Urea Cycle Disorders: Role of the Nephrologist

Antonio Pisani, Cristina Marchetiello, Maria Amicone [...]

Giornale di Tecniche Nefrologiche e Dialitiche

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Other

First published 2009-07

Osmotic Demyelination Syndrome as a Consequence of Treating Hyperammonemia in a Patient with Ornithine Transcarbamylase Deficiency

Javier F. Cardenas, John B. Bodensteiner

Journal of Child Neurology

Open access

Research article

First published 2022

Hyperargininemia Due to Arginase 1 Deficiency: Variability in Clinical and Biochemical Presentations in Malaysian children

Anasufiza Habib, Norashareena Mohamed Shakrin

Sage Open Pathology

Open access

Case report

First published 2022

Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature

Nishil Dalsania, Suhali Kundu, Ravi Karan Patti [...]

Journal of Investigative Medicine High Impact Case Reports

Free access

Review article

First published 2012-5

Severe hyperammonaemia in adults not explained by liver disease

Valerie Walker

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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