Evidence map›Paper›PMID 24010089›Full record

ReviewPediatric gastroenterology, hepatology & nutrition2012

Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

Jeong Kee Seo

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Pediatric gastroenterology, hepatology & nutrition, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.6field-weighted citation impact, top 17% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

20 citing papers in PubMed, 40 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Epidemiology of Wilson's Disease and Pathogenic Variants of theInternational journal of molecular sciences · 2024
    Review
  6. Monitoring of Copper in Wilson Disease.Diagnostics (Basel, Switzerland) · 2023
    Review
  7. Article
  8. Evaluation of Validity and Efficiency of Diagnostic Criteria in Autoimmune Hepatitis in Children.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2021
    Article
  9. Article
  10. Article
  11. Observational
  12. Article
  13. Functional Characterization of NovelFrontiers in pediatrics · 2018
    Article
  14. [The diagnostic value and limits of diagnostic parameters for Wilson's disease].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2017
    Article
  15. Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease.Pediatric gastroenterology, hepatology & nutrition · 2015
    Article
  16. Article
  17. Abnormality on liver function test.Pediatric gastroenterology, hepatology & nutrition · 2013
    Review
  18. Review
  19. Wilson disease in children and young adults - State of the art.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
    Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Jeong Kee SeoDivision of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
Seoul National University · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, brain and cornea. Mutations in the WD gene, ATP7B, cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More than 500 mutations are now recognized, scattered throughout the ATP7B gene. Since WD has protean clinical presentations, awareness of WD in clinical practice is important for the early diagnosis and prevention of accumulated copper toxicity. Molecular genetic testing is playing an increasingly important role in the diagnosis of WD in uncertain cases and family screening. Siblings should be screened for WD once an index case has been diagnosed. Discrimination of heterozygotes from asymptomatic patients is essential to avoid inappropriate lifelong therapy for heterozygotes. Genetic testing, either by haplotype analysis or by mutation analysis, is the only definite solution for differentiating heterozygote carriers from affected asymptomatic patients. Routine genetic testing, because of the multitude of documented mutations, has been thought to be impractical until recently. However, genetic testing is now being more actively applied to the diagnosis of WD, particularly in young children in whom conventional biochemical diagnosis has much limitation and only genetic testing is able to confirm WD. Because advancement of modern biochemical technology now allows more rapid, easier, and less expensive mutation detection, direct DNA sequencing could be actively considered as the primary mode of diagnostic investigation rather than a supplementary test to the conventional biochemical tests. This review will focus on the recent advancement of molecular genetics and genetic diagnosis of WD in very young children on the basis of research data of the Seoul National University Children's Hospital and recent literature.

Indexed as

ATP7BChildGenetic diagnosisMutationWilson disease

Identifiers

PMID24010089
PMCPMC3746050
OpenAlexW2138492683

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.