Evidence map›Paper›PMID 37238417›Full record

ArticleChildren (Basel, Switzerland)2023

Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.

Gianluca Bossù, Laura Pedretti, Lorenzo Bertolini, Susanna Esposito

Open access · goldAbstract readCase Reports
In one paragraph

Article in Children (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

4 authors at 1 institution in 1 country.

Gianluca BossùPediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
Laura PedrettiPediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
Lorenzo BertoliniUnit of Radiologic Sciences, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
Susanna EspositoPediatric Clinic, Department of Medicine and Surgery, University Hospital of Parma, 43126 Parma, Italy.
University of Parma · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher Disease (GD) is a condition resulting from an autosomal recessive inheritance pattern, characterized by a deficiency of the lysosomal enzyme beta-glucocerebrosidase. This leads to the accumulation of glucocerebroside and other glycolipids in multiple tissues, causing damage to various organ systems. The diagnosis of GD can be challenging due to its heterogeneity, non-specific symptoms, and variability across different geographic regions and age groups. Although GD is suspected based on symptoms or signs, the diagnosis is confirmed through the measurement of deficient b-glucocerebrosidase activity and the identification of biallelic pathogenic variants in the

Indexed as

enzyme replacement therapyGaucher diseasegaucheromahepatomegalysplenomegaly

Identifiers

PMID37238417
PMCPMC10216919
OpenAlexW4378515977

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.