ArticleOncotarget2017
Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.Human mutation · 2025Article
- Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.Journal of inherited metabolic disease · 2024Review
- [Full-cycle, multidisciplinary and systematic management of citrin deficiency].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis.Journal of human genetics · 2023Article
- Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.Frontiers in pediatrics · 2023Article
- Identification of Novel Mutations in Chinese Infants With Citrullinemia.Frontiers in genetics · 2022Article
- Physical and neuropsychological development of children with Citrin deficiency.Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- [Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases.Frontiers in genetics · 2019Article
- Neonatal Cholestasis: A Pandora's Box.Clinical medicine insights. Pediatrics · 2018Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) arises from biallelic
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.