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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D. Baumgartner MR, et al. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. doi: 10.1093/hmg/9.19.2853. Hum Mol Genet. 2000. PMID: 11092761
Their metabolic phenotype includes hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia. Both are homozygous for the missense mutation, R84Q, which alters a conserved residue in the P5CS gamma-glutamyl kinase domain. ...
Their metabolic phenotype includes hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia. Both are …
Enteral L-arginine supplementation for prevention of necrotizing enterocolitis in very low birth weight neonates: a double-blind randomized pilot study of efficacy and safety.
Polycarpou E, Zachaki S, Tsolia M, Papaevangelou V, Polycarpou N, Briana DD, Gavrili S, Kostalos C, Kafetzis D. Polycarpou E, et al. JPEN J Parenter Enteral Nutr. 2013 Sep;37(5):617-22. doi: 10.1177/0148607112471561. Epub 2013 Jan 17. JPEN J Parenter Enteral Nutr. 2013. PMID: 23329787 Clinical Trial.
Endothelial nitric oxide is an important regulator of vascular perfusion and is synthetized from the amino acid L-arginine. Hypoargininemia is frequently observed in preterm neonates and may predispose them to NEC. ...
Endothelial nitric oxide is an important regulator of vascular perfusion and is synthetized from the amino acid L-arginine. Hypoargininem