Evidence map›Paper›PMID 42745849›Full record

ArticleFrontiers in genetics2026

Glycogen storage disease type VII (Tarui disease): a case report presenting a

Mariapia Griffo, Nicola Molitierno, Laura Napoli, Michela Ripolone, Simona Zanotti, Francesco Fortunato, Gabriele Tumminello, Maurizio Moggio, Marco Locatelli, Stefania Paola Corti and 2 more

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

Article in Frontiers in genetics, 2026. 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

12 authors.

Mariapia GriffoDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Nicola MolitiernoNeuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Laura NapoliDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Michela RipoloneNeuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Simona ZanottiNeuromuscular and Rare Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Francesco FortunatoDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Gabriele TumminelloDepartment of Cardio-Thoracic-Vascular Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore, Policlinico, Italy.
Maurizio MoggioDepartment of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, Milan, Italy.
Marco LocatelliUnit of Neurosurgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore, Policlinico, Italy.
Stefania Paola CortiDepartment 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.
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 type VII (GSD-VII), or Tarui disease, is a rare autosomal recessive disorder caused by biallelic loss-of-function variants in the

Indexed as

glycogen storage diseaseGSD-VIImetabolic myopathyPFKMphosphofructokinaseTarui disease

Identifiers

PMID42745849
PMCPMC13574603

What OpenQuestion holds

Textmetadata
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.