Evidence map›Paper›PMID 33138098›Full record

ReviewInternational journal of molecular sciences2020

Biomarkers in Anderson-Fabry Disease.

Irene Simonetta, Antonino Tuttolomondo, Mario Daidone, Antonio Pinto

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06007768 (Autoimmune and Inflammatory Response Biomarkers in Fabry Disease), which is not on this map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
4.6field-weighted citation impact, top 4% 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.

NCT06007768 completednot on this mapstarted 2022, after this paper: background citation

Autoimmune and Inflammatory Response Biomarkers in Fabry Disease

TypeobservationalSponsorFundacion para la Investigacion Biomedica del Hospital Universitario Ramon y CajalRan2022 to 2023Enrolled32ConditionsFabry Disease
3 · Its place in the literature

Who cites it

46 citing papers in PubMed, 60 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Monocyte-Amplified Transcriptional Signatures of Human Diseases.bioRxiv : the preprint server for biology · 2026
    Article
  5. Article
  6. Review
  7. Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026
    Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Frontiers in medicine · 2025
    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

4 authors at 1 institution in 1 country.

Irene SimonettaDepartment of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy.ORCID 0000-0003-1574-104X
Antonino TuttolomondoDepartment of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy.
Mario DaidoneDepartment of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy.ORCID 0000-0003-1413-5945
Antonio PintoDepartment of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy.
University of Palermo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry disease is a rare lysosomal storage disorder caused by a deficiency of α-galactosidase A, resulting in multisystemic involvement. Lyso-Gb3 (globotriaosylsphingosine), the deacylated form of Gb3, is currently measured in plasma as a biomarker of classic Fabry disease. Intensive research of biomarkers has been conducted over the years, in order to detect novel markers that may potentially be used in clinical practice as a screening tool, in the context of the diagnostic process and as an indicator of response to treatment. An interesting field of application of such biomarkers is the management of female heterozygotes who present difficulty in predictable clinical progression. This review aims to summarise the current evidence and knowledge about general and specific markers that are actually measured in subjects with confirmed or suspected Fabry disease; moreover, we report potential novel markers such as microRNAs. Recent proteomic or metabolomic studies are in progress bringing out plasma proteome profiles in Fabry patients: this assessment may be useful to characterize molecular pathology of the disease, to improve diagnostic process, and to monitor response to treatment. The management of Fabry disease may be improved by the identification of biomarkers that reflect clinical course, severity, and the progression of the disease.

Indexed as

MetabolomeAnimalsBiomarkersFabry DiseaseHumansMicroRNAsProteomeBiomarkersMicroRNAsProteomebiomarkersfabrylyso-Gb3

Identifiers

PMID33138098
PMCPMC7662984
OpenAlexW3096894426

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.