Evidence map›Paper›PMID 38673884›Full record

Observational studyInternational journal of molecular sciences2024

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln

Rocío Blanco, Yolanda Rico-Ramírez, Álvaro Hermida-Ameijeiras, Israa Mahmoud Sanad Abdullah, Kolja Lau, Jorge Alvarez-Rubio, Elena Fortuny, Amparo Martínez-Monzonís, Albina Nowak, Peter Nordbeck and 10 more

Open access · goldAbstract readObservational Study
In one paragraph

Observational study in International journal of molecular sciences, 2024. 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
0.3field-weighted citation impact, top 43% 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, 1 citations in OpenAlex.

  1. Article
  2. The kidney in genetic metabolic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  3. Article
  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

20 authors at 8 institutions in 4 countries.

Rocío BlancoCardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.
Yolanda Rico-RamírezCardiology Department, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain.
Álvaro Hermida-AmeijeirasDepartment of Internal Medicine, Clinical University Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.ORCID 0000-0003-3757-262X
Israa Mahmoud Sanad AbdullahDepartment of Endocrinology and Clinical Nutrition, University Hospital Zurich, 8091 Zurich, Switzerland.ORCID 0000-0002-8819-5492
Kolja LauDepartment of Internal Medicine I, University Hospital Würzburg, 97080 Würzburg, Germany.ORCID 0000-0002-4317-8824
Jorge Alvarez-RubioCardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.
Elena FortunyCardiology Department, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain.
Amparo Martínez-MonzonísCardiology Department, Clinical University Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.ORCID 0000-0002-4379-140X
Albina NowakDepartment of Endocrinology and Clinical Nutrition, University Hospital Zurich, 8091 Zurich, Switzerland.ORCID 0000-0002-4119-5516
Peter NordbeckDepartment of Internal Medicine I, University Hospital Würzburg, 97080 Würzburg, Germany.ORCID 0000-0002-2560-4068
Carlos Veras-BurgosCardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.
Jaume Pons-LlinaresCardiology Department, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain.
Emiliano RossiCardiology Department, Italian Hospital of Buenos Aires, Buenos Aires C1199ABB, Argentina.ORCID 0000-0002-8930-9738
Fiama Caimi-MartínezCardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.ORCID 0000-0003-0657-0306
Teresa Bosch-RoviraCardiology Department, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain.
Marta Alamar-CerveraCardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.
Virginia Ruiz-PizarroCardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.ORCID 0000-0002-6032-2090
Laura Torres-JuanThe Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain.ORCID 0000-0002-8739-6081
Damian Heine-SuñerThe Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain.ORCID 0000-0001-9374-1219
Tomás Ripoll-VeraCardiology Department, Hospital Universitario Son Llatzer, 07198 Palma de Mallorca, Spain.ORCID 0000-0001-9222-325X
Health Research Institute of the Balearic Islands · ESHospital Son Llatzer · ESHospital Italiano de Buenos Aires · ARUniversidade de Santiago de Compostela · ESUniversitätsklinikum Würzburg · DEUniversity Hospital of Zurich · CHHospital Universitario Son Espases · ESInstituto de Salud Carlos III · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The p.Arg301Gln variant in the α -galactosidase A gene (

Indexed as

alpha-GalactosidaseFabry DiseasePhenotypeAdultAgedFemaleHumansMaleMiddle AgedPenetranceRetrospective Studiesalpha-GalactosidaseGLA protein, humanAFDAnderson–Fabry diseasehypertrophic cardiomyopathylysosomalrenal failureα-galactosidase A deficiency

Identifiers

PMID38673884
PMCPMC11050256
OpenAlexW4394748681

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.