ArticleCurrent gastroenterology reports2010
Genetic testing for Wilson disease: availability and utility.
Article in Current gastroenterology reports, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed, 29 citations in OpenAlex.
- Cholestasis beyond the Neonatal and Infancy Periods.Pediatric gastroenterology, hepatology & nutrition · 2016Review
- Wilson's disease: A review of what we have learned.World journal of hepatology · 2015Article
- Genetic diseases that predispose to early liver cirrhosis.International journal of hepatology · 2014Review
- Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.World journal of pediatrics : WJP · 2013Article
- Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.PloS one · 2013Article
- An update on laboratory diagnosis of liver inherited diseases.BioMed research international · 2013Review
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 at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson disease, a genetic disorder of copper metabolism, presents typically in the second and third decades of life with hepatic or neuropsychiatric disease. Clinical presentations often vary depending on age and degree of onset; although clinical and biochemical testing can usually establish a diagnosis, the data are difficult to interpret in some patients. Correctly identifying patients from nonaffected carriers is important because treatment is lifelong. Genetic testing has greatly improved the ability to diagnose Wilson disease in affected patients and in their siblings even without clear-cut clinical and biochemical data. Direct sequencing of ATP7B for disease-specific mutations is now the standard for molecular diagnosis. However, haplotype analysis is useful when only a single mutation can be found. In specific populations with a higher frequency of a specific mutation, direct testing for these mutations can simplify and expedite molecular diagnosis. The molecular genetic test is now available commercially and in specific research laboratories; however, barriers to its use include cost, understanding when to perform it, and interpretation. This test eventually will be incorporated into the diagnostic armamentarium, allowing timely diagnosis and perhaps reversal or even prevention of further copper-induced injury.
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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.