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Retricted access

Case report

First published 2018-4

Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature

Hussein Algahtani, Seham Alameer, Yousef Marzouk [...]

The Neuroradiology Journal

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Other

First published 2007-02

Extensive Cortical Magnetic Resonance Signal Change in Proximal Urea Cycle Disorder

P.S. Bindu, S. Sinha, A.B. Taly [...]

Journal of Child Neurology

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Review article

First published 2025-11-1

On the horizon: Efforts in urea cycle disorders to better predict severity and develop novel treatment strategies

Kirkland A. Wilson, Nicholas Ah Mew, Andrea Gropman

Translational Science of Rare Diseases

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Other

First published 2010-03

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

Mercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas [...]

Journal of Child Neurology

Free access

Research article

First published 1977-1

Diagnosis of Urea Cycle Disorders

Trevor Palmer, Victor G. Oberholzer

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Research article

First published 2016-8-26

Defects of the urea cycle

Uta Lichter-Konecki

Translational Science of Rare Diseases

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Case report

First published 2013-1

A Rare Case of Hyperammonemia Complication of High-Protein Parenteral Nutrition

Unnikrishnan Pillai, Roopkiranjot Kahlon, James Sondheimer [...]

Journal of Parenteral and Enteral Nutrition

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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

Open access

Case report

First published 2014

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

Eric T Rush, Julianne E Hartmann, Jill C Skrabal [...]

Sage Open Medical Case Reports

Open access

Research article

First published 2018-12-20

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium

Nicholas Ah Mew, Avital Cnaan, Robert McCarter [...]

Translational Science of Rare Diseases

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