Evidence map›Paper›PMID 38254927›Full record

ReviewGenes2023

Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.

Raafiah Izhar, Margherita Borriello, Antonella La Russa, Rossella Di Paola, Ananya De, Giovambattista Capasso, Diego Ingrosso, Alessandra F Perna, Mariadelina Simeoni

Open access · goldAbstract readReview
In one paragraph

Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
8.9field-weighted citation impact, top 1% 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

46 citing papers in PubMed, 51 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Observational
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. The kidney in genetic metabolic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026
    Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. 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

9 authors at 3 institutions in 1 country.

Raafiah IzharDepartment of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Margherita BorrielloDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Antonella La RussaDepartment of Sperimental Medical and Surgical Sciences, Magna Graecia University, 88100 Catanzaro, Italy.
Rossella Di PaolaDepartment of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Ananya DeDepartment of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Giovambattista CapassoBiogem S.c.a.r.l. Research Institute, 83031 Ariano Irpino, Italy.
Diego IngrossoDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Alessandra F PernaNephrology and Dialysis Unit, Department of Translation Medical Sciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Mariadelina SimeoniNephrology and Dialysis Unit, Department of Translation Medical Sciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0001-8203-9416
University of Campania "Luigi Vanvitelli" · ITBiogem · ITMagna Graecia University · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the

Indexed as

Fabry DiseaseLysosomal Storage DiseasesBiomarkersFemaleHumansKidneyMaleQuality of LifeBiomarkersclinical manifestationsFabry diseasegenetic basisGLA genequality of lifetherapiesX-chromosome inactivation

Identifiers

PMID38254927
PMCPMC10815601
OpenAlexW4390273080

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.