Article
Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis.
Pediatric research - 1 Aug 2007
Moonen Rob M J, Paulussen Aimee D C, Souren Nicole Y P, Kessels Alfons G H, Rubio-Gozalbo M Estela, Villamor Eduardo
Abstract excerpt
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...
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