Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency
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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