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Article

Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.

Journal of clinical laboratory analysis - 1 Apr 2020

Fan Lijuan, Zhao Jing, Jiang Li, Xie Lingling, Ma Jiannan, Li Xiujuan, Cheng Min

Abstract excerpt

BACKGROUND: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare urea cycle disorder. The aim of this study was to present the clinical findings, management, biochemical data, molecular genetic analysis, and short-term prognosis of five children with CPS1D. METHODS: The information of five CPS1D patients was retrospectively studied. We used targeted next-generation sequencing to identify carbamoyl...

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PMID: 31749211
DOI: 10.1002/jcla.23124
PMCID: PMC7171324

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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