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April 10, 2024

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

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

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Abstract

To explore the prevalence, clinical features, genetic characteristics and prognosis of Citrin deficiency in Henan province of China.

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Cite This Study

Zhu et al. (2024) studied this question.

synapsesocial.com/papers/68e6fb90b6db643587675e9f https://doi.org/10.3760/cma.j.cn511374-20230301-00103

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Newborn Screening for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency and Analysis of SLC25A13 Gene Mutations in Hefei, ChinaOriginal Research · 2026
2Characteristics of patients with neonatal intrahepatic cholestasis caused by citrin deficiency in China: long-term follow-up outcomes.Retrospective Study · 2026
3Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants: Case reports on clinical presentation, genotype analysis, and considerations for negative newborn screening2024 · 2 citations
4Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spotsOriginal Research · 2026
5[Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province].2025