Evidence map›Paper›PMID 39496313›Full record

ReviewSeminars in liver disease2025

Wilson Disease: Novel Diagnostic and Therapeutic Approaches.

Zoe Mariño, Michael L Schilsky

Abstract readReview
In one paragraph

Review in Seminars in liver disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

12 citing papers in PubMed, 1 synthesis or guideline pooled it.

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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

2 authors.

Zoe MariñoLiver Unit, Hospital Clínic Barcelona, IDIBAPS, CIBERehd, ERN-RARE Liver, Universitat de Barcelona, Barcelona, Spain.
Michael L SchilskyDepartment of Medicine, Yale School of Medicine, New Haven, Connecticut.

Funding

Biomarkers for treatment monitoring and prognostication of disorders of hepatic copper metabolismR01DK137861 · NIDDK · YALE UNIVERSITY · PI MICHAEL L SCHILSKY · 2024 to 2026
$2.1M
NIDDK NIH HHS R01 DK137861NIH HHS R01 GR124795
6 · The paper itself

Abstract

The Wilson disease (WD) research field is rapidly evolving, and new diagnostic and therapeutical approaches are expected to be change-gamers in the disease for the incoming years, after decades of slow changing options. Non-ceruloplasmin-bound copper assays for circulating bioavailable copper are being tested for use in monitoring therapy and may also help in the diagnosis of new cases of WD. Other diagnostic advances include the use of quantitative detection of ATP7B peptides in dried blood spots, a method that is being tested for use in the newborn screening for WD, and the use of metallothionein immunostaining of liver biopsy specimens to differentiate WD from other liver diseases. Ongoing and future trials of gene therapy and use of methanobactin are expected to restore biliary copper excretion from the liver, thus making a cure for WD a plausible therapeutic objective. With the aim of helping updating physicians, this review summarizes the novel methods for WD diagnosis and future therapies. Advancing understanding of the scientific advances that can be applied to WD will be critical for ensuring that our patients will receive the best current and future care.

Indexed as

CopperHepatolenticular DegenerationAdenosine TriphosphatasesBiomarkersCation Transport ProteinsChelating AgentsCopper-Transporting ATPasesGenetic TherapyHumansLiverMetallothioneinNeonatal ScreeningPredictive Value of TestsAdenosine TriphosphatasesATP7B protein, humanBiomarkersCation Transport ProteinsChelating AgentsCopperCopper-Transporting ATPasesMetallothionein

Identifiers

PMID39496313
PMCPMC12962356

What OpenQuestion holds

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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.