Asn674Ile mutation in carbamoyl phosphate synthetase 1 promotes enzyme alteration and hyperammonemia in mice
Dis Model Mech. 2025 May 27:dmm.052303. doi: 10.1242/dmm.052303. Online ahead of print. ABSTRACT Carbamoyl phosphate synthetase 1 (CPS1) deficiency is a rare metabolic disorder that …