Results 91 to 100 of about 23,446 (182)

Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's disease

, 2015
Huntington's disease (HD) is a neurodegenerative disorder wherein the aetiological defect is a mutation in the Huntington's gene (HTT), which alters the structure of the huntingtin protein through the lengthening of a polyglutamine tract and initiates a ...
Begley, Paul, Church, SJ, Snell, Russell G, Faull, Richard, Reid, Suzanne J, Patassini, S, Unwin, RD, Curtis, Maurice, Church, Stephanie J, Waldvogel, Henry J, Patassini, Stefano, Dragunow, Mike, Faull, Richard L M, Dragunow, Michael, Waldvogel, Henry, Unwin, Richard D; id_orcid, Begley, P, Reid, Susanne, Xu, J, Unwin, Richard D, Xu, Jingshu, Cooper, Garth, Snell, Russell   +22 more
core   +1 more source

Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD)

Journal of Patient-Reported Outcomes
Background Ornithine transcarbamylase deficiency (OTCD) is a rare hereditary metabolic disorder caused by mutations in the OTC gene. It is the most common urea cycle disorder (UCD), occurring in approximately one in 14,000 births worldwide.
Christina Theodore-Oklota, Ashley O’Mara, Jessica Butler, Shayna Egan, Elizabeth Hribal, Christopher Evans   +5 more
doaj   +1 more source

Gene expression and activity of urea cycle enzymes of rat hepatocytes cold stored up to 120 hours in University of Wisconsin solution

, 2006
Urea cycle (UC) is the main pathway of ammonium removal. A deficiency in any of the five classical enzymes of the pathway causes a urea cycle disorder. Hepatocellular transplantation is one of the techniques applicable to treat this disorder.
Rodríguez, J., Mamprín, M, BELLAROSA, CRISTINA, Almada, L, Guibert, E, Mediavilla, M, GIRAUDI, PABLO JOSÈ, TIRIBELLI, CLAUDIO   +7 more
core  

Late diagnosis of a rare urea cycle disorder mimicking Kleine-Levin syndrome. [PDF]

Neurol Clin Pract, 2018
Bozinov N, Han M, Lau W, Santini V.
europepmc   +1 more source

A Possible Case of Acquired Urea Cycle Disorder in a Critical Care Patient. [PDF]

Cureus
Momoh R, Alijani H, Gaznavee KSMZZ, Ogundiya E, Sharp S.   +4 more
europepmc   +1 more source

Nonhepatic Hyperammonemic Encephalopathy: An Unmasked Urea Cycle Disorder in the Setting of Late Gastric Bypass Complication. [PDF]

ACG Case Rep J
Zeghlache R, Samardzic T, Norman K.
europepmc   +1 more source

Nonhepatic hyperammonemic encephalopathy due to undiagnosed urea cycle disorder. [PDF]

Proc (Bayl Univ Med Cent), 2015
Mahmood T, Nugent K.
europepmc   +1 more source

[Vomiting associated with weight stagnation and convulsions: urea cycle disorder should be suspected]. [PDF]

Pan Afr Med J, 2018
Hasbaoui BE, Boujrad S, Abilkacem R, Agadr A.   +3 more
europepmc   +1 more source

Quantifying preferences for urea cycle disorder treatments using a discrete choice experiment

Urea cycle disorders (UCDs) can cause ammonia accumulation and central nervous system toxicity. Nitrogen-binding medications can be efficacious, but certain attributes may negatively impact adherence.
Robert D. Steiner (11244483), Matthew Seibt (18169962), Josiah Edelblut (18169959), Kyle Martin (3711160), John Hilton (2424955), Jeffrey R. Skaar (12835189), Nandini Hadker (5141999), Adrian Quartel (18169965)   +7 more
core   +1 more source

Neurologic outcome of urea cycle disorder liver transplant recipients may be predicted by pretransplant neurological imaging. [PDF]

Pediatr Transplant, 2015
Bolton SM, Campbell KM, Kukreja M, Kohli R.   +3 more
europepmc   +1 more source