Results 31 to 40 of about 23,457 (249)
Urea Cycle Disorders in Neonates: Six Case Reports
Journal of Pediatric Research, 2017 Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik +7 more
doaj +1 more source
High Protein Diet and Huntington's Disease. [PDF]
PLoS ONE, 2015 Huntington's disease (HD) is a neurodegenerative disorder caused by the huntingtin (HTT) gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues.
Chiung-Mei Chen +10 more
doaj +1 more source
Disease Models & Mechanisms, 2014 The urea cycle functions to incorporate ammonia, generated by normal metabolism, into urea. Urea cycle disorders (UCDs) are caused by loss of function in any of the enzymes responsible for ureagenesis, and are characterized by life-threatening episodes ...
Peter J. McGuire +8 more
doaj +1 more source
Hyperammonemic coma in a patient with late-onset OTC deficiency
La Pediatria Medica e Chirurgica, 2014 Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them.
V. D’Onofrio +5 more
doaj +1 more source
Management of metabolic crisis in three-dayold newborn
Liječnički vjesnik, 2023 Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload.
Tea Kržak +3 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2022 Citrin deficiency belongs to a group of urea cycle disorders that can be identified during newborn screening by measuring citrulline, phenylalanine, methionine, and galactose levels.
Toshihiro Suzuki +4 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2016 The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG), and thus N-acetylglutamate synthase (NAGS) is an ...
Eiman H. Al Kaabi, Ayman W. El-Hattab
doaj +1 more source
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 +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 +13 more
doaj +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Patients with chronic kidney disease undergoing hemodialysis commonly experience reduced physical function, fatigue, poor sleep quality, and impaired health‐related quality of life. Intradialytic exercise has been proposed as a non‐pharmacological strategy to improve these outcomes.
Klebson da Silva Almeida +6 more
wiley +1 more source