Results 11 to 20 of about 3,294,575 (284)

Urea cycle disorders

Current Treatment Options in Neurology, 2003
Urea cycle disorders comprise a group of inborn errors of metabolism that represent unique gene-nutrient interactions whose significant morbidity arises from acute and chronic neurotoxicity associated with often massive hyperammonemia.
Lee, Brendan, Kleppe, Soledad, Mian, Asad   +2 more
core   +3 more sources

Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives

Patient Preference and Adherence, 2017
Luis Peña-Quintana,1–3 Marta Llarena,2 Desiderio Reyes-Suárez,2 Luis Aldámiz-Echevarria4 1Pediatric Gastroenterology, Hepatology, and Nutrition Unit, Universitario Materno-Infantil Hospital de Canarias, University of Las ...
Peña-Quintana L, Llarena M, Reyes-Suárez D, Aldámiz-Echevarria L   +3 more
doaj   +3 more sources

Urea cycle disorders

JAAPA
Bakalářská práce se zabývá močovinovým cyklem, enzymy v něm vystupujícími, deficity těchto enzymů a léčení těchto poruch. Současně se také pojednává o hyperamonemii jako o hlavním symptomu poruch močovinového cyklu.
Klouda, Lukáš
core   +6 more sources

The Urea Cycle Disorders

, 2017
The urea cycle is the primary nitrogen disposal pathway in humans. The urea cycle requires the coordinated function of six enzymes and two mitochondrial transporters to catalyze the conversion of a molecule of ammonia, the α-nitrogen of aspartate and ...
Belen Pappa, Nicholas Ah Mew, Andrea L. Gropman   +2 more
core   +2 more sources

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. [PDF]

Genet Med, 2015
PURPOSE: The aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders. METHODS: The relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were ...
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, UCD Consortium, Scharschmidt BF.   +30 more
europepmc   +3 more sources

Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature. [PDF]

Neuroradiol J, 2018
Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis.
Algahtani H, Alameer S, Marzouk Y, Shirah B.   +3 more
europepmc   +2 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   +6 more sources

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises. [PDF]

Pediatr Neurol
Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises.
Chanvanichtrakool M, Schreiber JM, Chen WL, Barber J, Zhang A, Ah Mew N, Schulze A, Wilkening G, Nagamani SCS, Gropman A, Urea Cycle Disease Consortium.   +10 more
europepmc   +2 more sources

Supporting your practice: Compounding sodium benzoate oral liquid for urea cycle disorders

, 2021
Urea cycle disorders (UCD) are rare inherited metabolic disorders with an incidence estimated to be 1: 35,000 births. UCDs are caused by the dysfunction of any of the six enzymes (namely, carbamoyl phosphate synthetase I, N-acetylglutamate synthetase ...
Haywood, Alison, Glass, Beverley
core   +1 more source

Hyperammonemia of unknown cause in a young postpartum woman: a case report

Journal of Medical Case Reports, 2022
Background Hyperammonemia is a medical condition described as increased or elevated serum ammonia levels. High serum levels of ammonia can cause neurotoxicity. Sudden onset severe hyperammonemia may cause severe encephalopathy with brain damage.
Sadaf Hanif, Sher Muhammad Sethi
doaj   +1 more source