Carbamoly-phosphate Synthetase 1 (CPS1) Deficiency: A Tertiary Center Retrospective Cohort Study and Literature Review
Molecular Genetics and Metabolism Reports（2024）
Key words
Carbamoly-phosphate synthetase 1 (CPS1) deficiency,Hyperammonemia,Urea cycle defects,Peritoneal dialysis,CPS1 gene,Carglumic acid
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