Evidence map›Paper›PMID 22941676›Full record

ReviewIndian journal of gastroenterology : official journal of the Indian Society of Gastroenterology2012

Genetics of Wilson's disease: a clinical perspective.

S Suresh Kumar, George Kurian, C E Eapen, Eve A Roberts

Abstract readReview
PubMed Publisher
In one paragraph

Review in Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 20% 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

5 citing papers in PubMed, 16 citations in OpenAlex.

  1. Epidemiology of Wilson's Disease and Pathogenic Variants of theInternational journal of molecular sciences · 2024
    Review
  2. The genetics of Wilson disease.Handbook of clinical neurology · 2017
    Review
  3. Copper phenotype in Alzheimer's disease: dissecting the pathway.American journal of neurodegenerative disease · 2013
    Article
  4. Review
  5. Multiplex PCR-based Sequencing ofJournal of clinical and experimental hepatology
    Article
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

4 authors at 4 institutions in 2 countries.

S Suresh KumarDepartment of Hepatology, Christian Medical College, Vellore 632 004, Tamil Nadu, India.
George Kurian
C E Eapen
Eve A Roberts
Christian Medical College · INChristian Medical College & Hospital · INPondicherry Institute of Medical Sciences · INUniversity of Toronto · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hepatic Wilson's disease is often a difficult diagnosis to confirm. This review examines the current role of genetic tests for Wilson's disease and is aimed at clinicians caring for patients with this disease. We discuss how genetic testing is carried out for Wilson's disease, indications for these tests, and genetic counseling for the family. In contrast to the advances in diagnosis of Wilson's disease by testing for ATP7B mutations, genotype-phenotype correlations are not yet sufficiently established. The non-Wilsonian copper overload syndromes causing cirrhosis in children are another important area for study. The review also identifies further areas for research into the genetics of Wilson's disease in India.

Indexed as

Genetic TestingAdenosine TriphosphatasesCation Transport ProteinsCopper-Transporting ATPasesGenetic CounselingGenotypeHepatolenticular DegenerationHumansPhenotypeAdenosine TriphosphatasesATP7B protein, humanCation Transport ProteinsCopper-Transporting ATPases

Identifiers

PMID22941676
OpenAlexW2038814940

What OpenQuestion holds

Textmetadata
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.