Evidence map›Paper›PMID 41312553›Full record

ArticleMolecular genetics and metabolism reports2025

Pancreatic involvement in

Dennis T Famili, Gehad Elghazali, Emanuela Argili, Russell P Saneto, Michael Harris, Oleg Gerasimenko, Julia Gerasimenko, Manolis Fanto, Hormos Salimi Dafsari, Heinz Jungbluth

Abstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 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

10 authors.

Dennis T FamiliDepartment of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom.
Gehad ElghazaliSheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
Emanuela ArgiliBrain Development Research Program, UCSF, San Francisco CA94158, USA.
Russell P SanetoSeattle Children's Research Hospital, Seattle, WA 98105, USA.
Michael HarrisVici Syndrome Foundation, USA.
Oleg GerasimenkoSchool of Biosciences, Cardiff University, Cardiff, United Kingdom.
Julia GerasimenkoSchool of Biosciences, Cardiff University, Cardiff, United Kingdom.
Manolis FantoDepartment of Basic and Clinical Neuroscience, IoPPN, King's College London, United Kingdom.
Hormos Salimi DafsariDepartment of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Germany.
Heinz JungbluthDepartment of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Vici syndrome is a severe neurodevelopmental multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. There may be additional variable involvement of other organs.

Indexed as

AutophagyEPG5Intracellular traffickingPancreatitis

Identifiers

PMID41312553
PMCPMC12648722

What OpenQuestion holds

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LicenceCC BY
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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.