ReviewBioMed research international2013
An update on laboratory diagnosis of liver inherited diseases.
Review in BioMed research international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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
8 citing papers in PubMed.
- Liver disease with unknown etiology - have you ruled out alpha-1 antitrypsin deficiency?Therapeutic advances in chronic disease · 2021Review
- Impaired cholesterol metabolism in the mouse model of cystic fibrosis. A preliminary study.PloS one · 2021Article
- Autopsy relevance determining hemochromatosis: Case report.Medicine · 2017Article
- The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency.Therapeutic advances in gastroenterology · 2017Review
- Clinical Features of Lysosomal Acid Lipase Deficiency.Journal of pediatric gastroenterology and nutrition · 2015Article
- Genetic, metabolic and environmental factors involved in the development of liver cirrhosis in Mexico.World journal of gastroenterology · 2015Review
- Recent advances in hemochromatosis: a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia.Hepatology international · 2015Review
- Genetic diseases that predispose to early liver cirrhosis.International journal of hepatology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement. They include Wilson's disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency. In addition, cystic fibrosis, although it is not specifically a liver disease, may cause a severe liver involvement in a significant percentage of cases. For all these pathologies, the disease gene is known, and molecular analysis may contribute to the unequivocal diagnosis. This approach could avoid the patient invasive procedures and limit complications associated with a delay in diagnosis. We review liver inherited diseases on the basis of the genetic defect, focusing on the contribution of molecular analysis in the multistep diagnostic workup.
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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.