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Cognitive outcome in urea cycle disorders
Molecular Genetics and Metabolism, 2004Despite treatment, cognitive and motor deficits are common in individuals with inherited urea cycle disorders. However, the extent to which the deficits involve specific cognitive or sensorimotor domains is unknown. Furthermore, little is known about the neurochemical basis of cognitive impairment in these disorders.
Andrea L, Gropman, Mark L, Batshaw
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Liver transplantation in urea cycle disorders
European Journal of Pediatrics, 1999We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymatically characterized in our ...
J M, Saudubray +9 more
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2010
Abstract The urea cycle is a series of steps required to generate urea from nitrogen produced by protein catabolism. The cycle was first described in 1932 by Krebs and Henseleit (Krebs and Henseleit 1932). Six enzymes and two transporters are necessary for urea cycle activity. Specific deficiencies have been described with each of these.
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Abstract The urea cycle is a series of steps required to generate urea from nitrogen produced by protein catabolism. The cycle was first described in 1932 by Krebs and Henseleit (Krebs and Henseleit 1932). Six enzymes and two transporters are necessary for urea cycle activity. Specific deficiencies have been described with each of these.
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2000
Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino-acid metabolism. The presentation is highly variable: those presenting in the newborn period usually have an overwhelming illness that rapidly progresses from poor feeding, vomiting, lethargy or irritability and tachypnoea ...
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Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino-acid metabolism. The presentation is highly variable: those presenting in the newborn period usually have an overwhelming illness that rapidly progresses from poor feeding, vomiting, lethargy or irritability and tachypnoea ...
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Problems in the management of urea cycle disorders
Molecular Genetics and Metabolism, 2004Several recent reviews describe the management of urea cycle disorders. There is much agreement on diet, alternative pathway therapy, maintenance of arginine and ornithine levels in acute and chronic management, sick-day regimens, and some aspects of monitoring. However, differences remain in several areas, and physicians at most treatment centers have
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Hereditary Metabolic Disorders of the Urea Cycle
1971Publisher Summary Urea is the main end product of nitrogen metabolism. It is formed from the ammonia arising from the metabolism of the amino acids of protein by a sequence of five reactions, four of which comprise the urea cycle proper. The end result is the conversion of ammonia into urea, with the reformation of the individual reactants of the ...
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Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan
Journal of Inherited Metabolic Disease, 2021Kimitoshi Nakamura +2 more
exaly
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan
Journal of Inherited Metabolic Disease, 2021Kimitoshi Nakamura +2 more
exaly