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[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2024

Zhu Xinyun, Xu Yizhuo, Zhang Jie, Li Xiaole, He Jingwen, Jia Chenlu, Lyu Shubo, Liu Suna, Gao Yanbo, Ma Kun, Ouyang Yunjia, Ren Yihui, Zhao Dehua

Abstract excerpt

OBJECTIVE: To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China. METHODS: A total of 986 565 neonates screened by tandem mass spectrometry at the Third Affiliated Hospital of Zhengzhou University from January 2013 to December 2021 were retrospectively analyzed. Analysis of SLC25A13 gene variants and parental verification were carried...

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PMID: 38565513
DOI: 10.3760/cma.j.cn511374-20230301-00103

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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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