About this entry Cite this entry Noroozi, A., Barzegary, A., Karimi, A., Rezaei, N. (2023). Carbamoyl Phosphate Synthetase I Deficiency. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1727-1 Download citation .RIS .ENW .BIB DO...
Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. Prenat Diagn 2001: 21 (8): 634-637.Carbomoyl phosphate synthetase I deficiency: Molecular genetic findings and prenatal diagnosis . Aoshima T, Kajita M, Sekido Y, Mimura S, Itakura A, Yasuda I, Sa...
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Carbamoyl phosphate synthetase deficiency (CPSD) is an autosomal recessive disorder of ureagenesis. Untreated patients with complete CPSD die as neonates of hyperammonemia. Since CPS is not expressed in amniocytes, prenatal detection is limited to in utero liver biopsy. To determine if the CPS ...
Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D). CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. ...
10 NAGS deficiency is the rarest of the urea cycle disorders. The majority of the mutations appear to be private.43 View chapterExplore book Related terms: Citrulline Glutamine Arginine Ammonium Pyrophosphate Amino Acid N Acetylglutamic Acid Synthetase Carbamoyl Phosphate Urea Cycle Disorder Vi...
Introduction: Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-th... Carmen,Diez-Fernandez,Johannes,... - 《Expert Opin Ther Targets》 被引量: 7发表: 2017年 TREATMENT FOR RESTORING UREAGENESIS IN CAR...
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency. Mol Genet Metab 01, 311–323 (2010). 23. Summar, M. L. et al. Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. Mol Genet Metab 81 ...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook (redirected fromCarbamylphosphate) car·ba·mo·yl phos·phate (kar'bă-mō-il fos'fāt), A reactive intermediate capable of transferring its carbamoyl group to an acceptor molecule, forming citrulline from orn...
Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency 2010, Molecular Genetics and Metabolism Citation Excerpt : It contains one of the two very reactive cysteines that become exposed after NAG binding [78,124–126], as well as several residues of the regulatory ...