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A case of late-onset carbamoyl phosphate synthetase 1 deficiency: diagnostic challenges and management in a

Xiaopu Cui1, Sixian Guo1, Yu Zhang1

  • 1Neurology Department II, Hebei Children's Hospital, Shijiazhuang, Hebei, China.

Clinical Biochemistry
|November 16, 2025
PubMed
Abstract

Keywords:
CPS1geneCarbamoyl phosphate synthetase 1 deficiencyHyperammonemiaLow-protein dietUrea cycle disorder

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