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Article

Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 14 Nov 2023

Zhang Zhanming, Tong Fan, Chen Chi, Zhang Ting, Qian Guling, Yang Xin, Huang Xinwen, Yang Rulai, Zhao Zhengyan

Abstract excerpt

OBJECTIVES: To investigate genotype-phenotype characteristics and long-term prognosis of neonatal carbamoyl phosphate synthetase 1 (CPS1) deficiency among children through newborn screening in Zhejiang province. METHODS: The clinical and follow-up data of children with CPS1 deficiency detected through neonatal screening and confirmed by tandem mass spectrometry and genetic testing in Zhejiang Province Newborn...

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Identifiers

PMID: 37986659
DOI: 10.3724/zdxbyxb-2023-0359
PMCID: PMC10764181

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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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