Evidence map›Paper›PMID 39156960›Full record

ArticleFrontiers in genetics2024

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.

Ying Chen, Xinyu Wang, Na Ji, Qi Fang, Xin Chang, Meirong Liu

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

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. 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

6 authors.

Ying ChenDepartment of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Xinyu WangDepartment of Rheumatology, First Affiliated Hospital of Soochow University, Suzhou, China.
Na JiDepartment of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Qi FangDepartment of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Xin ChangDepartment of Rheumatology, First Affiliated Hospital of Soochow University, Suzhou, China.
Meirong LiuDepartment of Neurology, The First Affiliated Hospital of Soochow University, Suzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycogen Storage Disease Type VII (GSD VII) is a rare glycogen metabolism disorder resulting from mutations in the PFKM gene, inherited in an autosomal recessive manner. It is characterized by exercise intolerance, muscle cramps, myoglobinuria, compensatory hemolysis, and later onset

Indexed as

case reportcompound heterozygous mutationsglycogen storage disease Type VIIhemolysisPFKM

Identifiers

PMID39156960
PMCPMC11327043

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.