ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2021
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Etiology and clinical characteristics of infantile cholestasis: a single-center retrospective study of 326 cases.Frontiers in pediatrics · 2026Article
- Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2021Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis.
methodsThe clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family.
resultsForty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including
conclusionsThe etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.
Indexed as
Identifiers
33476544PMC7818162W3121547482What OpenQuestion holds
Registered trials
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