ArticleJournal of clinical and translational hepatology2023
Clinical and Genetic Characteristics of Alagille Syndrome in Adults.
Article in Journal of clinical and translational hepatology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review.Journal of comparative effectiveness research · 2025Pooled it
- Article
- [Clinical characteristics and follow-up in children with Alagille syndrome].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Article
- A patient with Alagille syndrome had a novel JAG1 gene mutation.Genes & diseases · 2026Article
- Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome.Case reports in cardiology · 2026Article
- Successful long-term survival following lipiodol chemoembolization for hepatocellular carcinoma in Alagille syndrome: A case report.Radiology case reports · 2025Article
- Research trends and hotspots of adult Alagille syndrome: a bibliometric analysis.Orphanet journal of rare diseases · 2025Review
- Association of Very RareGenes · 2024Article
- Management of adults with Alagille syndrome.Hepatology international · 2023Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Aims: Alagille syndrome (AGS) is an autosomal dominant multisystem disorder caused by mutations in the Methods: Eight adults diagnosed with AGS at our hospital between June 2016 and June 2019 were included in the study. Clinical data, biochemical results, imaging results, liver histopathology, and genetic testing were analyzed. Results: Three female and five male patients with a median age of 24.5 years at the time of diagnosis were included in the analysis. The clinical manifestations were adult-onset (62.5%, 5/8), cholestasis (50%, 4/8), butterfly vertebrae (62.5%, 5/8), systolic murmurs (12.5%, 1/8), typical facies (12.5%, 1/8), posterior embryotoxon, and renal abnormalities (0/8). Genetic sequencing showed that all patients had mutations, with four occurring in the Conclusions: The clinical manifestations highlighted by the current diagnostic criteria for most adults with AGS are atypical. Those who do not meet the criteria but are highly suspicious of having AGS need further evaluation, especially genetic testing.
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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.