Evidence map›Paper›PMID 38053927›Full record

ArticleMolecular genetics and metabolism reports2023

Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto E Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert, MilitaoBrazilian Collaborative Group on Gaucher Disease

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 34% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. The most common structural variant expected at theClinical parkinsonism & related disorders · 2025
    Article
  7. Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).American journal of medical genetics. Part A · 2024
    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 at 7 institutions in 2 countries.

Suelen Porto BasgaluppHospital Moinhos de Vento, Porto Alegre, RS, Brazil.
Vivian AltmannBasic Research and Advanced Investigations in Neurosciences Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
Filippo Pinto E VairoDepartment of Clinical Genomics and Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Ida Vanessa Doederlein SchwartzBasic Research and Advanced Investigations in Neurosciences Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
Marina SiebertBasic Research and Advanced Investigations in Neurosciences Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
MilitaoBrazilian Collaborative Group on Gaucher Disease
Hospital Infantil Albert Sabin · BRUniversidade Federal do Rio Grande do Sul · BRHemorio · BRHospital de Clínicas de Porto Alegre · BRHospital Infantil Joana de Gusmão · BRHospital Moinhos de Vento · BRMayo Clinic · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in

Indexed as

Allele frequencyBrazilian patientsGaucher diseaseGBA1Mutations

Identifiers

PMID38053927
PMCPMC10694776
OpenAlexW4386577587

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.