
Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort
Keywords: Cys، Cysteine; ACE, Alternative conserved exon; Arg, Arginine; Asn, Asparagine; BLAST, Basic Local Alignment Search Tool; CPS1, Carbamoyl Phosphate Synthetase 1; CPS1D, Carbamoyl Phosphate Synthetase 1 deficiency; Cys, Cysteine; DNA, Deoxyribonucleic Acid; EEG, Electroe