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Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis.

Rob M J Moonen, Aimee D C Paulussen, Nicole Y P Souren, Alfons G H Kessels, M Estela Rubio-Gozalbo, Eduardo Villamor
Pediatric Research 2007 August
A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1) has been correlated with low plasma concentrations of L-arginine in neonates. As plasma L-arginine concentrations are decreased in premature infants with necrotizing enterocolitis (NEC), we hypothesized that the CPS1 T1405N polymorphism would correlate with the presence of NEC. We analyzed the CPS1 genotypes for the T1405N polymorphism in 17 preterm infants (

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