ReviewClinical medicine (London, England)2025
Rare but relevant: Genetic liver disease in the general medical setting.
Review in Clinical medicine (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed.
- Letter to the Editor: 'Rare but relevant: Genetic liver disease in the general medical setting'.Clinical medicine (London, England) · 2026Article
- Adaptive Regulation of mTOR Activity by AMPK, Akt, and ATF6 Pathways in Pi*Z Alpha-1 Antitrypsin Deficient Hepatocytes.Biomolecules · 2026Article
- [AcuteZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Review
- [Research progress of inherited liver disease in 2025].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Review
- Challenging times in medical education in the era of artificial intelligence can provide opportunities.Clinical medicine (London, England) · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic liver diseases are individually rare but collectively significant causes of chronic liver dysfunction in adults. Conditions such as Wilson disease, hereditary haemochromatosis and alpha-1 antitrypsin deficiency often present with vague or non-specific features, including fatigue, abnormal liver enzymes or extrahepatic manifestations. These features are easily misattributed to more common hepatic or systemic conditions, particularly in acute or general medical settings. Early recognition and investigation are crucial, as targeted treatments can prevent progression to end-stage liver disease, and timely referral enables cascade testing for at-risk relatives. With increasing access to genomic testing through systems such as the NHS Genomic Medicine Service in England, generalists play a key role in integrating genomics into routine care. This article provides a practical update on recognising, investigating and managing rare genetic liver conditions, aiming to support earlier diagnosis, better patient outcomes, and improved use of genomic services in frontline practice.
Indexed as
Identifiers
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.