Results 21 to 30 of about 2,610,885 (275)

Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature [PDF]

Case Reports in Medicine, 2016
Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods.
Ruby Upadhyay, Thomas P. Bleck, Katharina M. Busl   +2 more
doaj   +2 more sources

Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders

Molecular Genetics and Metabolism Reports
Citrin deficiency is a congenital secondary urea cycle disorder lacking useful disease models for effective treatment development. In this study, human induced pluripotent stem cells (iPSCs) were generated from two patients with citrin deficiency and ...
Mai Okano, Masahiro Yasuda, Yui Shimomura, Yoshikazu Matsuoka, Yasumasa Shirouzu, Tatsuya Fujioka, Masatoshi Kyo, Shoji Tsuji, Kazunari Kaneko, Hirofumi Hitomi   +9 more
doaj   +2 more sources

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings [PDF]

Orphanet Journal of Rare Diseases, 2019
Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a ...
Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere   +9 more
doaj   +2 more sources

Liver Ultrastructure in Mitochondrial Urea Cycle Enzyme Deficiencies and Comparison with Reye's Syndrome

Hepatology, 1984
The liver ultrastructural findings in two girls with partial carbamyl phosphate synthetase I (CPS) deficiency and their heterozygote parents and two siblings with ornithine transcarbamylase (OTC) deficiency are described. Liver ultrastructure in the four patients with inherited deficiences of urea cycle enzymes showed minimal ...
P S, Latham, D R, LaBrecque, J W, McReynolds, G, Klatskin   +3 more
openaire   +3 more sources

Hydrogen from urea: a novel energy source [PDF]

, 2011
This research presents a viability assessment of using urea as an energy vector. Urea is attractive in comparison to the chemicals previously considered for supplying hydrogen since it is non-toxic, non-flammable and stable at room temperature and ...
Rollinson, Andrew Neil
core   +5 more sources

Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician

Вопросы современной педиатрии, 2023
Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of
Nataliya V. Zhurkova, Nato V. Vashakmadze, Nataliya S. Sergienko, Anastasiya N. Dudina, Mariya S. Karaseva, Liliya R. Selimzyanova, Anna Yu. Rachkova, Yuliya Yu. Kotalevskaya, Andrey N. Surkov   +8 more
doaj   +1 more source

Management of late onset urea cycle disorders—a remaining challenge for the intensivist?

Annals of Intensive Care, 2021
Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity.
S. Redant, A. Empain, A. Mugisha, P. Kamgang, R. Attou, P. M. Honoré, D. De Bels   +6 more
doaj   +1 more source

Urea Cycle and Arginine Metabolic Changes in COVID-19 Patients

, 2023
Aim:Metabolic changes begin after the invasion of an infectious microorganism and continue to develop as a series of interrelated events. Arginine is important in infectious diseases due to lymphocyte proliferation, nitricoxide production by macrophages,
Sedat Özbay, Gülacan Tekin, Tekin, Guelacan, Hekim, Nezih, AYDIN, HÜSEYİN, Ata Berkay Sargın, Aydin, Hueseyin, İlhan Korkmaz, Sargin, Ata Berkay, Yurtbay, Sefa, Sefa Yurtbay, Yusuf Kenan Tekin, Ozbay, Sedat, Hüseyin Aydın, Korkmaz, Ilhan, Tekin, Yusuf Kenan, Nezih Hekim   +16 more
core   +1 more source

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan [PDF]

, 2021
Urea cycle disorders (UCDs) are inherited metabolic disorders with impaired nitrogen detoxification caused by defects in urea cycle enzymes. They often manifest with hyperammonemic attacks resulting in significant morbidity or death.
Yoichi, Wada, Yoriko, Watanabe, Johannes, Häberle, Kei, Murayama, Hiroshi, Mochizuki, Kimitoshi, Nakamura, Reiko, Horikawa, Mureo, Kasahara, Narutaka, Mochizuki, Yoko, Nakajima, Shirou, Matsumoto, Jun, Kido, Tomoko, Lee   +12 more
core   +2 more sources

The Role of Urea Cycle Functional Studies in Preclinical Research. [PDF]

J Inherit Metab Dis
Inborn errors of metabolism affecting the urea cycle are rare severe conditions caused by impaired nitrogen detoxification, leading to hyperammonemia and neurological morbidity across a broad clinical spectrum.
Breuillard N, Zürcher N, Faccin E, Stocker KL, Poms M, Häberle J.   +5 more
europepmc   +2 more sources