Results 191 to 200 of about 41,178 (242)
Angewandte Chemie, EarlyView.Coupling biosynthetic noncanonical amino acid production with genetic code expansion enables site‐specific incorporation of azatryptophans into PET‐degrading enzymes (PETases). By isosteric single‐atom editing of a conserved tryptophan, AzaPETases break the activity–stability trade‐off, delivering higher catalytic efficiency at elevated temperature and
Elwy H. Abdelkader +3 more
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Seminars in Neurology, 2014
The urea cycle is the primary nitrogen-disposal pathway in humans. It 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 bicarbonate into urea.
Ileana Pacheco-Colón +2 more
exaly +5 more sources
The urea cycle is the primary nitrogen-disposal pathway in humans. It 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 bicarbonate into urea.
Ileana Pacheco-Colón +2 more
exaly +5 more sources
Seminars in Neonatology, 2002
Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients.
J V, Leonard, A A M, Morris
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Most patients with urea cycle disorders who present as neonates, do so with deteriorating feeding, drowsiness and tachypnoea, following a short initial period when they appear well. The plasma ammonia should be measured at the same time as the septic screen in such patients.
J V, Leonard, A A M, Morris
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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. Current paradigms of treatment are focused on controlling the flux of nitrogen transfer through the hepatic urea cycle
Kleppe, Soledad +2 more
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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. Current paradigms of treatment are focused on controlling the flux of nitrogen transfer through the hepatic urea cycle
Kleppe, Soledad +2 more
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Journal of Human Genetics, 2019
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with hyperammonemia that arise in either the neonatal period (about ...
Matsumoto, Shirou +5 more
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The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with hyperammonemia that arise in either the neonatal period (about ...
Matsumoto, Shirou +5 more
openaire +3 more sources
Treatment of Urea Cycle Disorders
Enzyme, 2017Recent advances in the treatment of inborn errors of urea synthesis have significantly decreased mortality. Treatment has included combining a high-quality low-protein diet with supplements of deficient metabolites and stimulation of alternate pathways of waste nitrogen excretion.
M L, Batshaw, P S, Monahan
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2016
The urea cycle is the final pathway for removal of surplus nitrogen from the body, the major route in humans for irreversible detoxification of ammonia and a source of arginine.2,3 Patients with adult-onset urea cycle disorders present with clinical symptoms that have a broad differential diagnosis (e.g., protein aversion, inappetence, cyclic vomiting,
Stefan Kölker +2 more
+5 more sources
The urea cycle is the final pathway for removal of surplus nitrogen from the body, the major route in humans for irreversible detoxification of ammonia and a source of arginine.2,3 Patients with adult-onset urea cycle disorders present with clinical symptoms that have a broad differential diagnosis (e.g., protein aversion, inappetence, cyclic vomiting,
Stefan Kölker +2 more
+5 more sources
Clinics in Liver Disease, 2000
Deficiency of any of the five enzymes in the urea cycle results in the accumulation of ammonia and leads to encephalopathy. Episodes of encephalopathy and associated symptoms are unpredictable and, if untreated, are lethal or produce devastating neurologic sequelae in long-term survivors.
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Deficiency of any of the five enzymes in the urea cycle results in the accumulation of ammonia and leads to encephalopathy. Episodes of encephalopathy and associated symptoms are unpredictable and, if untreated, are lethal or produce devastating neurologic sequelae in long-term survivors.
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Hospital Practice, 1985
A major achievement of decades of research has been identification of the specific biochemical urea cycle defects responsible for the five inherited enzyme deficiencies, any of which can cause hype...
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A major achievement of decades of research has been identification of the specific biochemical urea cycle defects responsible for the five inherited enzyme deficiencies, any of which can cause hype...
openaire +2 more sources