Evidence map›Paper›PMID 40791806›Full record

ArticleFrontiers in pediatrics2025

Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report.

Mengting Ma, Nan Wu, Jie Feng, Xu Sang, Feixiang Duan, Congcong Li, Qiang Zhang

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

Article in Frontiers in pediatrics, 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

7 authors.

Mengting MaDepartment of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Nan WuMolecular Diagnosis Center, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Jie FengDepartment of Neurosurgery, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Xu SangDepartment of Pediatrics, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Feixiang DuanDepartment of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Congcong LiDepartment of Radiology, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.
Qiang ZhangDepartment of Laboratory Medicine, The First Affiliated Hospital of Bengbu Medical University, Bengbu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abundant suspected Gaucher cells. Full-spine MRI exhibited widening of the distal femoral metaphysis with an "Erlenmeyer flask deformity." Subsequent enzymatic and genetic evaluations for Gaucher disease (GD) confirmed reduced β-glucocerebrosidase (GBA) activity, significantly elevated glucosylsphingosine (Lyso-Gb1) levels, and a homozygous missense mutation in the

Indexed as

Gaucher diseasegenetic testingMendelian inheritancerare diseaseβ-glucocerebrosidase

Identifiers

PMID40791806
PMCPMC12336233

What Socratic holds

Textmetadata
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 Socratic graph.