Results for &quot;&quot;Urea Cycle Disorders, Inborn&quot;&quot;[mesh_terms]

Molecular diagnosis of urea cycle disorders: current global scenario.

K Vaidyanathan

Indian journal of biochemistry & biophysics 2014;50(5):357-62

The role and control of arginine levels in arginase 1 deficiency.

George A Diaz, Mark Bechter, Stephen D Cederbaum

Journal of inherited metabolic disease 2023;46(1):3-14

Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice.

Andrea Pession, Albero Burlina, Serena Gasperini, Giancarlo la Marca, Barbara Siri, Marco Spada, Margherita Ruoppolo, Albina Tummolo

Nutrients 2024;16(1):13

The diagnostic challenge of mild citrulline elevation at newborn screening.

Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, Giovanna Cotugno, Silvia Di Michele, Teresa Giovanniello, Giancarlo La Marca, Francesca Romana Lepri, Antonio Novelli, Claudia Rossi, Michela Semeraro, Carlo Dionisi-Vici

Molecular genetics and metabolism 2022;135(4):327-332

Nonhepatic hyperammonemic encephalopathy complications following bariatric surgery: a case report and review of the literature.

Carmi Bartal, Nuphar Vinegrad, Orna Staretz-Chacham, Leonid Barski

Journal of medical case reports 2021;15(1):385

Neurological manifestations of organic acidurias.

Moacir Wajner

Nature reviews. Neurology 2020;15(5):253-271

Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report.

Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt

Journal of medical case reports 2019;12(1):274

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Aileen Kenneson, Rani H Singh

Orphanet journal of rare diseases 2021;15(1):279

New insights in nutritional management and amino acid supplementation in urea cycle disorders.

Fernando Scaglia

Molecular genetics and metabolism 2010;100 Suppl 1(Suppl 1):S72-6

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi-Vici

Orphanet journal of rare diseases 2016;10():29

Hyperammonemia in review: pathophysiology, diagnosis, and treatment.

Ari Auron, Patrick D Brophy

Pediatric nephrology (Berlin, Germany) 2012;27(2):207-22

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.

Sandesh C S Nagamani, Allison Tam, Juan C Marini, Mahmoud A Mohammad, Inka C Didelija, Ann McMeans, Mahshid Azamian, Umang Agarwal

Genetics in medicine : official journal of the American College of Medical Genetics 2018;20(7):708-716

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.

Martina Huemer, Johannes Häberle, Markus A Landolt, Carmen Diez-Fernandez, Nina Hediger

Journal of inherited metabolic disease 2019;41(4):689-698

A longitudinal study of urea cycle disorders.

Mark L Batshaw, Mendel Tuchman, Marshall Summar, Jennifer Seminara

Molecular genetics and metabolism 2015;113(1-2):127-30