Results 131 to 140 of about 23,446 (182)
Urea cycle disorder in C3H‐H‐2° mice with juvenile steatosis of viscera
FEBS Letters, 1990 We determined the activities of urea cycle enzymes in the liver of C3H-H-2o-jsv mice. The activities of all urea cycle enzymes decreased in the latter period of lactation.
Takeyori Saheki +2 more
exaly +2 more sources
Expert Opinion on Therapeutic Targets, 2017 INTRODUCTION: Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death,
Carmen Díez-Fernández +1 more
exaly +2 more sources
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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
openaire +3 more sources
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.
Helman, Guy +2 more
openaire +4 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.
Helman, Guy +2 more
openaire +4 more sources
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
openaire +2 more sources
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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JAAPA
ABSTRACT Urea cycle disorders (UCDs) are rare genetic disorders affecting the urea cycle, a metabolic pathway that leads to the excretion of waste products such as ammonia. This case report describes a patient who developed acute encephalopathy secondary to hyperammonemia.
Francis Rossignol +4 more
+5 more sources
ABSTRACT Urea cycle disorders (UCDs) are rare genetic disorders affecting the urea cycle, a metabolic pathway that leads to the excretion of waste products such as ammonia. This case report describes a patient who developed acute encephalopathy secondary to hyperammonemia.
Francis Rossignol +4 more
+5 more sources
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