
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression
Keywords: hCPS1, human carbamoyl phosphate synthetase 1; CPS1D, carbamoyl phosphate synthetase 1 deficiency; DSF, differential scanning fluorimetry; V1013del, CPS1-valine 1013 deletion; CP, carbamoyl phosphate; NAG, N-acetyl-L-glutamateUrea cycle disorder; Carbamoy