Evidence map›Paper›PMID 41112284›Full record

ArticleFrontiers in immunology2025

Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.

Lyna-Nour Hamidi, Jack Christopher Drda, Meriem Belhocine, Hannah-Laure Elfassy, Stéphanie Ducharme-Bénard, Maxime Chayer-Lanthier, Bushra Sultana, Sylvain Lanthier

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

Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Lyna-Nour HamidiDepartment of Genetics, McGill University, Montreal, QC, Canada.
Jack Christopher DrdaDepartment of Microbiology, University of Pittsburgh, Pittsburgh, PA, United States.
Meriem BelhocineDepartment of Internal Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada.
Hannah-Laure ElfassyFaculty of Medicine, Université de Montréal, Montreal, QC, Canada.
Stéphanie Ducharme-BénardDepartment of Internal Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, QC, Canada.
Maxime Chayer-LanthierFaculty of Medicine, University of Sherbrooke, Sherbrooke, QC, Canada.
Bushra SultanaFaculty of Medicine, Université de Montréal, Montreal, QC, Canada.
Sylvain LanthierFaculty of Medicine, Université de Montréal, Montreal, QC, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mevalonate kinase deficiency (MKD) is an inherited autoinflammatory syndrome resulting from impaired isoprenoid biosynthesis due to biallelic mevalonate kinase (

Indexed as

Ischemic StrokeMevalonate Kinase DeficiencyPhosphotransferases (Alcohol Group Acceptor)AdultHumansInterleukin-1betaMaleMutation, MissenseInterleukin-1betamevalonate kinasePhosphotransferases (Alcohol Group Acceptor)auto-inflammationischemic strokemevalonate kinase deficiencyneuroinflammationvasculopathy

Identifiers

PMID41112284
PMCPMC12531262

What OpenQuestion holds

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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.