Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24692
Abstract: The sensitivity and specificity of current biomarkers for gastric cancer were insufficient. The aim of the present study was to screen novel biomarkers and determine the diagnostic values of ornithine aminotransferase (OAT) and carbamoyl phosphate… read more here.
Keywords: ornithine aminotransferase; carbamoyl phosphate; gastric cancer; phosphate synthetase ... See more keywords
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Sign Up to like & getrecommendations! Published in 2020 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202010_23220
Abstract: OBJECTIVE Long-term survival of patients with neonatal-onset carbamoyl-phosphate synthetase 1 deficiency (CPS1D), an autosomal recessive disorder characterized by repeated, life-threatening hyperammonemia, is rare. We describe the diagnosis and clinical management of a teenager with neonatal-onset… read more here.
Keywords: neonatal onset; carbamoyl phosphate; phosphate synthetase; long term ... See more keywords
Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2022.1025572
Abstract: Background Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonaemia. The biochemical measurement of the intermediate metabolites is helpful for CPS1D diagnosis; it however cannot distinguish CPS1D… read more here.
Keywords: cps1d; deficiency; carbamoyl phosphate; phosphate synthetase ... See more keywords