What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview.

Rafael Alves Cordeiro, Nilton Salles Rosa Neto, Henrique Ayres Mayrink Giardini

Open access · diamondAbstract readReview

In one paragraph

Review in Advances in rheumatology (London, England), 2024. 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

0.7field-weighted citation impact, top 32% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

An Overview of Gaucher Disease.Diagnostics (Basel, Switzerland) · 2024
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

3 authors at 2 institutions in 1 country.

Rafael Alves CordeiroDivision of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Arnaldo, 455, 3 andar, sala 3184, Cerqueira Cesar, Sao Paulo, SP, CEP 01246-903, Brazil. rafael19abc@hotmail.com.ORCID http://orcid.org/0000-0002-5695-9136

Nilton Salles Rosa NetoCentro de Doenças Raras e da Imunidade, Hospital Nove de Julho, São Paulo, Brazil.

Henrique Ayres Mayrink GiardiniDivision of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Arnaldo, 455, 3 andar, sala 3184, Cerqueira Cesar, Sao Paulo, SP, CEP 01246-903, Brazil.

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRUniversidade Nove de Julho · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients' quality of life and change the natural history of these diseases.

Indexed as

Eye DiseasesFabry DiseaseGaucher DiseaseLysosomal Storage DiseasesHumansQuality of LifeRheumatologistsFabry diseaseGaucher diseaseInborn errors of metabolismLysosomal storage diseasesRare diseasesRheumatic diseasesSphingolipidosesSphingolipids

Identifiers

PMID38520029

DOI10.1186/s42358-024-00362-2

PMCPMC13488701

OpenAlexW4393096975

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.