Evidence map›Paper›PMID 40626179›Full record

ArticleFrontiers in genetics2025

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.

Monica Sciacco, Sabrina Lucchiari, Letizia Bertolasi, Giacomo Pietro Comi, Stefania Corti, Dario Ronchi

Abstract readCase Reports
In one paragraph

Article in Frontiers in genetics, 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. Review
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

6 authors.

Monica SciaccoNeuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Sabrina LucchiariDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Letizia BertolasiDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Giacomo Pietro ComiDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Stefania CortiNeuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Dario RonchiDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycogen storage disease II or Pompe disease (PD), is a rare autosomal recessive disorder due to biallelic pathogenic variants in

Indexed as

acid maltase deficiencyGAAIVS1-32-13T>Gmuscle glycogenosisPompe disease

Identifiers

PMID40626179
PMCPMC12230033

What OpenQuestion holds

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Registered trials

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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.