Evidence map›Paper›PMID 38960689›Full record

ArticleInternal medicine (Tokyo, Japan)2025

Wilson's Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis.

Masami Minemura, Rei Fukuda, Kazuto Tajiri, Nozomu Muraishi, Aiko Murayama, Yuka Hayashi, Terumi Takahara, Akira Noguchi, Ichiro Yasuda

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

9 authors.

Masami MinemuraDepartment of Gastroenterology, Toyama University Hospital, Japan.
Rei FukudaDepartment of Clinical Genetics, Toyama University Hospital, Japan.
Kazuto TajiriDepartment of Gastroenterology, Toyama University Hospital, Japan.
Nozomu MuraishiDepartment of Gastroenterology, Toyama University Hospital, Japan.
Aiko MurayamaDepartment of Gastroenterology, Toyama University Hospital, Japan.
Yuka HayashiDepartment of Gastroenterology, Toyama University Hospital, Japan.
Terumi TakaharaDepartment of Gastroenterology, Toyama University Hospital, Japan.
Akira NoguchiDepartment of Diagnostic Pathology, Toyama University Hospital, Japan.
Ichiro YasudaDepartment of Gastroenterology, Toyama University Hospital, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson's disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient's other allele and was considered a novel mutation, classified as 'likely pathogenic' according to the American College of Medical Genetics guidelines.

Indexed as

Adenosine TriphosphatasesCation Transport ProteinsHepatolenticular DegenerationMutationNon-alcoholic Fatty Liver DiseaseCeruloplasminCopper-Transporting ATPasesDiagnosis, DifferentialHumansMaleYoung AdultAdenosine TriphosphatasesATP7B protein, humanCation Transport ProteinsCeruloplasminCopper-Transporting ATPasesATP7B gene mutationnon-alcoholic steatohepatitisWilson's disease

Identifiers

PMID38960689
PMCPMC11867747

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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.