Carbamoyl-Phosphate Synthase I Deficiency Disease

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Recent Publications on Carbamoyl-Phosphate Synthase I Deficiency Disease:
High-volume continuous venovenous hemofiltration as an effective therapy for acute management of inborn errors of metabolism in young children. BACKGROUND/AIM: Renal replacement therapies (RRTs) have been used for the...	16th October, 2007	Division of Pediatric Nephrology, Department of Pediatrics, National	Blood Purif. 2007;25(4):303-8. Epub 2007 Jul 20. DOI Direct Link
Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. Carbamoylphosphate synthetase I deficiency (CPS1D) is a urea-cycle...	4th July, 2007	Department of Pediatrics, Kyoto University Hospital, 54 Shogoin Sakyo,	J Hum Genet. 2007;52(4):349-54. Epub 2007 Feb 20. DOI Direct Link
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. BACKGROUND: The combination of intravenous sodium phenylacetate and sodium...	6th June, 2007	Department of Pediatrics, Division of Medical Genetics, Stanford	N Engl J Med. 2007 May 31;356(22):2282-92. DOI Direct Link
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. CPSI deficiency is an inborn error of metabolism caused by mutations in...	1st November, 2006	Vanderbilt University, Center for Human Genetic Research, Department of	Mol Genet Metab. 2006 Sep-Oct;89(1-2):80-6. Epub 2006 Jun 5. DOI Direct Link
Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old. Carbamyl phosphate synthase deficiency (CPS) is a rare urea cycle defect....	4th October, 2006	Department of Neurology, The Royal Brisbane Hospital, Brisbane, Australia.	J Clin Neurosci. 2006 Jul;13(6):702-6. DOI Direct Link
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Carbamoyl-Phosphate Synthase I Deficiency Disease Clinical Trials:
Human Heterologous Liver Cells for Infusion in Newborns With Urea Cycle Disorders	Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency Disease;   Ornithine Transcarbamylase Deficiency Disease;   Citrullinemia

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