Results 41 to 50 of about 23,446 (182)

Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients

, 2010
Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up
Gómez-López, L, Fons, C, Arranz, J A, Artuch, R, Häberle, J, Briones, P, Murgui, E, Serrano, M, Jara, F, Vilaseca, M A, Campistol, J, Pérez-Dueñas, B, García-Cazorla, A, Pineda, M   +13 more
core   +1 more source

Pathogenesis of a urea cycle disorder in ammonia plasma concentrations and metabolic exchange rates.

, 2012
(A) Simulated venous plasma and intrahepatic concentration profiles of ammonia during development of a urea cycle disorder. The black dashed line represents the overall reduction in ornithine transcarbamylase activity.
Jörg Lippert (124210), Lars Kuepfer (31319), Steffen Borchers (124204), Markus Krauss (124200), Stephan Schaller (124202), Rolf Findeisen (124207)   +5 more
core   +1 more source

Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia

Case Reports in Medicine, 2013
Hyperammonemia related to urea cycle disorders is a rare cause of potentially fatal encephalopathy that is encountered in intensive care units (ICUs). Left undiagnosed, this condition may manifest irreversible neuronal damage.
Marcel Cerqueira Cesar Machado, Gilton Marques Fonseca, José Jukemura   +2 more
doaj   +1 more source

Intrabiliary infusion of naked DNA vectors targets periportal hepatocytes in mice

Molecular Therapy: Methods & Clinical Development, 2022
Hydrodynamic tail vein injection (HTV) is the “gold standard” for delivering naked DNA vectors to mouse liver, thereby transfecting predominately perivenous hepatocytes.
Sereina Deplazes, Andrea Schlegel, Zhuolun Song, Gabriella Allegri, Nicole Rimann, Tanja Scherer, Melanie Willimann, Lennart Opitz, Sharon C. Cunningham, Ian E. Alexander, Anja Kipar, Johannes Häberle, Beat Thöny, Hiu Man Grisch-Chan   +13 more
doaj   +1 more source

Urea cycle dysregulation drives metabolic stress and neurodegeneration in Parkinson’s disease

npj Parkinson's Disease
Parkinson’s disease (PD), common neurodegenerative disorder, involves substantia nigra dopaminergic neuron loss and α-synuclein accumulation in Lewy bodies. While pathogenesis remains unclear, dysregulated urea metabolism may play a central role.
Shengyao Zhang, Guoran Wan, Yu Qiu, Meng Zhang, Hongmei Deng, Qiongfang Wang, Junyi Hu, Jie Gui, Dilong Chen, Boyue Huang, Jianhua Ran   +10 more
doaj   +1 more source

Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice

Molecular Therapy: Nucleic Acids, 2023
Ornithine transcarbamylase (OTC) plays a significant role in the urea cycle, a metabolic pathway functioning in the liver to detoxify ammonia. OTC deficiency (OTCD) is the most prevalent urea cycle disorder.
Kazuto Yamazaki, Kenji Kubara, Satoko Ishii, Keita Kondo, Yuta Suzuki, Takayuki Miyazaki, Kaoru Mitsuhashi, Masashi Ito, Kappei Tsukahara   +8 more
doaj   +1 more source

Determining the influence of inter-individual variability during development of a urea cycle disorder.

, 2012
(A) Simulated venous plasma concentration profiles of ammonia in 100 individuals during development of a urea cycle disorder (single profiles and mean). (B) The distribution of ammonia concentrations as well as the cumulative sums in healthy and diseased
Jörg Lippert (124210), Lars Kuepfer (31319), Steffen Borchers (124204), Markus Krauss (124200), Stephan Schaller (124202), Rolf Findeisen (124207)   +5 more
core   +1 more source

A longitudinal study of urea cycle disorders

, 2014
The Urea Cycle Disorders Consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCDs) with initial enrollment beginning in 2006. The consortium consists of
Summar, Marshall, Batshaw, Mark L, Seminara, Jennifer, Baumgartner, Matthias R; https://orcid.org/, Tuchman, Mendel, Stricker, Tamar   +5 more
core   +1 more source

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. [PDF]

Hepatology, 2013
UnlabelledGlycerol phenylbutyrate is under development for treatment of urea cycle disorders (UCDs), rare inherited metabolic disorders manifested by hyperammonemia and neurological impairment.
Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B.   +29 more
europepmc   +2 more sources

Neurological implications of urea cycle disorders [PDF]

Journal of Inherited Metabolic Disease, 2007
SummaryThe urea cycle disorders constitute a group of rare congenital disorders caused by a deficiency of the enzymes or transport proteins required to remove ammonia from the body. Via a series of biochemical steps, nitrogen, the waste product of protein metabolism, is removed from the blood and converted into urea. A consequence of these disorders is
A L, Gropman, M, Summar, J V, Leonard
openaire   +2 more sources