Results 71 to 80 of about 23,446 (182)

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

Journal of Medical Case Reports, 2018
Background Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a rare inherited urea cycle disorder, can remain undiagnosed for decades and suddenly turn into an acute life-threatening state.
Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt   +4 more
doaj   +1 more source

Use of an oversized AAV8 vector for CPS1 deficiency results in long-term survival and ammonia control

Molecular Therapy: Nucleic Acids
Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea-cycle disorder, results in hyperammonemia initiating a sequence of adverse events that can lead to coma and death if not treated rapidly.
Taryn Diep, Wesley Zhou, Rachel E. Reyes, Matthew Nitzahn, Isabel L. Day, Georgios Makris, Lindsay Lueptow, Irina Zhuravka, Stuti Bakshi, Jon Gangoiti, Hyacinth Padaon, Yunfeng Li, Bruce A. Barshop, Johannes Haberle, Gerald S. Lipshutz   +14 more
doaj   +1 more source

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Annals of Indian Academy of Neurology, 2016
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures.
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal   +2 more
doaj   +1 more source

Hyperammonemia Encephalopathy due to Urea Cycle Disorder Precipitated by Gastrointestinal Bleed in the Setting of Prior Bariatric Surgery. [PDF]

ACG Case Rep J, 2023
Loeffler J, Elfiky A, Al Moussawi H, Ravindran N.   +3 more
europepmc   +1 more source

Fatal Encephalopathy Caused by a Urea Cycle Disorder. [PDF]

J Clin Neurol, 2021
Park SH, Lee JH, Choi SJ, Kim HS, Kim NH.   +4 more
europepmc   +1 more source

Treatment and management for children with urea cycle disorder in chronic stage. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023
Huang X.
europepmc   +1 more source

Detection Methods for Asparagine and Glutamine Contents in Fruits and Vegetables and Recommendations for Dietary Intake of Fruits and Vegetables in Patients with Urea Cycle Disorders [PDF]

Shipin Kexue
This study established a novel method for measuring the contents of asparagine (Asn) and glutamine (Gln) in fruits and vegetables based on enzymatic hydrolysis combine with ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS)
YE Xinyu, LI Ziying, TANG Shujun, SUN Liping, ZHAO Yunxia, XIAO Weimin, GU Yaping, KUANG Huiying, CHEN Xin, YANG Guowu, HUANG Yali
doaj   +1 more source

Psychosocial issues that influence Urea Cycle Disorder families' decision to participeate [i.e. participate] in research

, 2007
This is a cross-sectional mixed study on families with a member with a Urea Cycle Disorder, an inborn error of metabolism. UCDs are genetic disorders that are caused by an alteration of a specific chemical reaction in metabolism, causing the impairment ...
Ateerat, Alisara
core  

Dietary management of urea cycle disorders:European practice

, 2013
Background: There is no published data comparing dietary management of urea cycle disorders (UCD) in different countries.Methods: Cross-sectional data from 41 European Inherited Metabolic Disorder (IMD) centres (17 UK, 6 France, 5 Germany, 4 Belgium, 4 ...
Rocha, J.C., Dixon, M., Baruteau, J., Maritz, C., Robertson, L.V., Dokoupil, K., Wegberg, A.van, Almeida, M.F., Almeida, M. F., Dawson, S., Assoun, M., Vande Kerckhove, K., van Rijn, M., Lowry, S., Bernabei, S. M., Janssen-Regelink, R.G., Terry, A., van Wyk, K., Dassy, Martine, Janssen-Regelink, R., White, F. J., Jouault, C., Vestergaard, H., Zweers, H., Saruggia, I., Micciche, A., Robert, M., Sjoqvist, E., MacDonald, A., Evans, S., Luyten, K., Dassy, M., Favre, E., Verge, S. Le, Gribben, J., Champion, H., McDowell, S., Rocha, J. C., Stafford, J., Jankowski, C., Heddrich-Ellerbrok, M., van Wegberg, A., Teeffelen-Heithoff, A. van, van Teeffelen-Heithoff, A., Eyskens, Fran\ue7ois, Dunlop, C., Bernabei, S.M., Link, R., Laguerre, C., Wegberg, A.M.J. van, Rijn, M. van de, Adam, S., Wildgoose, J., Meyer, U., Thom, R., nde Kerckhove, K. Va, Goncalves, C., Le Verge, S., Dubois, S., Eyskens, F., Webster, D., Vasconcelos, C., Rohde, C., Bigot, S., Faria, A., Wyk, K. van, Robertson, L. V., Ferguson, C., Daly, A., White, F.J.   +69 more
core   +1 more source

The burden of pharmacological treatment on health-related quality of life in people with a urea cycle disorder: a qualitative study. [PDF]

J Patient Rep Outcomes, 2021
Yeowell G, Burns DS, Fatoye F.
europepmc   +1 more source