Evidence map›Paper›PMID 37685755›Full record

ArticleJournal of clinical medicine2023

Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family.

Beatriz San Millán-Tejado, Carmen Navarro, Julián Fernández-Martín, Alberto Rivera, Irene Viéitez, Susana Teijeira, Saida Ortolano

Open access · goldAbstract read
In one paragraph

Article in Journal of clinical medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 30% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

7 authors at 3 institutions in 1 country.

Beatriz San Millán-TejadoRare Disease and Pediatric Medicine Group, Galicia Sur Health Research Institute (IIS Galicia Sur), Servizo Galego de Saúde-Universidade de Vigo (SERGAS-UVIGO), 36312 Vigo, Spain.
Carmen NavarroDepartment of Pathology, Hospital Alvaro Cunqueiro, Servizo Galego de Saúde (SERGAS), 36213 Vigo, Spain.
Julián Fernández-MartínRare Disease and Pediatric Medicine Group, Galicia Sur Health Research Institute (IIS Galicia Sur), Servizo Galego de Saúde-Universidade de Vigo (SERGAS-UVIGO), 36312 Vigo, Spain.ORCID 0000-0002-9391-4316
Alberto RiveraDepartment of Internal Medicine, Hospital Alvaro Cunqueiro, Servizo Galego de Saúde (SERGAS), 36213 Vigo, Spain.
Irene ViéitezRare Disease and Pediatric Medicine Group, Galicia Sur Health Research Institute (IIS Galicia Sur), Servizo Galego de Saúde-Universidade de Vigo (SERGAS-UVIGO), 36312 Vigo, Spain.ORCID 0000-0001-9241-0207
Susana TeijeiraRare Disease and Pediatric Medicine Group, Galicia Sur Health Research Institute (IIS Galicia Sur), Servizo Galego de Saúde-Universidade de Vigo (SERGAS-UVIGO), 36312 Vigo, Spain.ORCID 0000-0002-2092-5006
Saida OrtolanoRare Disease and Pediatric Medicine Group, Galicia Sur Health Research Institute (IIS Galicia Sur), Servizo Galego de Saúde-Universidade de Vigo (SERGAS-UVIGO), 36312 Vigo, Spain.ORCID 0000-0002-1098-3376
Servicio Gallego de Salud · ESUniversity Hospital Complex Of Vigo · ESUniversidade de Santiago de Compostela · ES

Funding

Instituto de Salud Carlos III, Spain PI19/01886Instituto de Salud Carlos III, Spain PI22/00827
6 · The paper itself

Abstract

Fabry disease (FD) is a rare lysosomal disorder caused by α-galactosidase A deficiency, and it leads to the systemic deposition of globotriasylceramide. Demonstrations of the storage material in biopsies support this diagnosis. We report a histological and ultrastructural study of biopsies that were performed on 11 individuals from a family with the variant p.Gln279Arg in

Indexed as

biopsyelectron microscopyFabry diseaseGb3lysosome

Identifiers

PMID37685755
PMCPMC10488914
OpenAlexW4386332846

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.