Evidence map›Paper›PMID 41155380›Full record

ArticleInternational journal of molecular sciences2025

Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes.

Irene Serrano-Gonzalo, Francisco Bauza, Laura Lopez de Frutos, Isidro Arevalo-Vargas, Mercedes Roca-Espiau, Marcio Andrade-Campos, Esther Valero-Tena, Sonia Roca-Esteve, David Iniguez, Pilar Giraldo

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

10 authors.

Irene Serrano-GonzaloFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.ORCID 0000-0002-7507-9249
Francisco BauzaInstituto de Biocomputación y Física de Sistemas Complejos (BIFI), Universidad de Zaragoza, 50018 Zaragoza, Spain.ORCID 0000-0002-8306-221X
Laura Lopez de FrutosFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.ORCID 0000-0002-1369-6225
Isidro Arevalo-VargasFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.ORCID 0000-0002-4805-4804
Mercedes Roca-EspiauFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.ORCID 0000-0001-5682-906X
Marcio Andrade-CamposFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.ORCID 0000-0003-1637-7112
Esther Valero-TenaFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.ORCID 0000-0002-3090-8787
Sonia Roca-EsteveFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.
David IniguezInstituto de Biocomputación y Física de Sistemas Complejos (BIFI), Universidad de Zaragoza, 50018 Zaragoza, Spain.
Pilar GiraldoFundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales (FEETEG), 50006 Zaragoza, Spain.ORCID 0000-0002-8791-1901

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The clinical heterogeneity of type 1 Gaucher disease (GD1) underscores the limited correlation between the

Indexed as

Gaucher DiseaseGenetic Association StudiesGlucosylceramidaseAdolescentAdultAgedChildChild, PreschoolFemaleGenotypeHumansMaleMiddle AgedMutationPhenotypeSpainGBA protein, humanGlucosylceramidasebone diseaseGaucher diseasegenotypemachine learningParkinson diseasephenotype

Identifiers

PMID41155380
PMCPMC12563535

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.