Evidence map›Paper›PMID 32719972›Full record

ArticleJournal of neurology2020

Oxidative stress biomarkers in Fabry disease: is there a room for them?

C Simoncini, S Torri, V Montano, L Chico, F Gruosso, A Tuttolomondo, A Pinto, I Simonetta, V Cianci, A Salviati and 8 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

17 citing papers in PubMed, 25 citations in OpenAlex.

  1. Review
  2. Article
  3. Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026
    Review
  4. Review
  5. Article
  6. Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Review
  12. Article
  13. Niemann-Pick Disease Type C (NPDC) by Mutation ofAntioxidants (Basel, Switzerland) · 2023
    Review
  14. Article
  15. Review
  16. Article
  17. 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

18 authors at 6 institutions in 2 countries.

C SimonciniDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
S TorriDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
V MontanoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
L ChicoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
F GruossoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
A TuttolomondoInternal Medicine and Stroke Care Ward, Department of Promoting Health, Maternal-Infant, Excellence and Internal and Specialized Medicine (Promise) G. D'Alessandro, University of Palermo, Palermo, Italy.
A PintoInternal Medicine and Stroke Care Ward, Department of Promoting Health, Maternal-Infant, Excellence and Internal and Specialized Medicine (Promise) G. D'Alessandro, University of Palermo, Palermo, Italy.
I SimonettaInternal Medicine and Stroke Care Ward, Department of Promoting Health, Maternal-Infant, Excellence and Internal and Specialized Medicine (Promise) G. D'Alessandro, University of Palermo, Palermo, Italy.
V CianciRegional Epilepsy Centre, Great Metropolitan Hospital "Bianchi-Melacrino-Morelli", Reggio Calabria, Italy.
A SalviatiLab Functional Genomics, Department of Biotechnology, Univ Verona, Genartis srl, Verona, Italy.
V VicenziMedical Genetics Unit, ASL 9, Verona, Italy.
G MarchiInternal Medicine Unit, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
D GirelliInternal Medicine Unit, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
D ConcolinoDepartment of Medical and Surgical Sciences, Pediatric Unit, "Magna Graecia" University, Catanzaro, Italy.
S SestitoDepartment of Medical and Surgical Sciences, Pediatric Unit, "Magna Graecia" University, Catanzaro, Italy.
M ZeddeAzienda Unità Sanitaria Locale, IRCCS di Reggio Emilia, Reggio Emilia, Italy.
G SicilianoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
Michelangelo MancusoDepartment of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy. michelangelo.mancuso@unipi.it.ORCID http://orcid.org/0000-0003-2738-8562
University of Pisa · ITDepartment of Health · ESAzienda Ospedaliera Universitaria Integrata Verona · ITMagna Graecia University · ITUniversity of Verona · ITAzienda Sanitaria Unità Locale di Reggio Emilia · IT

Funding

Partially supported by an Investigator-Initiated Research grant from Shire International GmbH, a Takeda company. IIR-ITA-001466
6 · The paper itself

Abstract

backgroundFabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression.

methodsWe have examined oxidative stress biomarkers [Advanced Oxidation Protein Products (AOPP), Ferric Reducing Antioxidant Power (FRAP), thiolic groups] in blood samples from 60 patients and 77 healthy controls.

resultsAOPP levels were higher in patients than in controls (p < 0.00001) and patients presented decreased levels of antioxidant defences (FRAP and thiols) with respect to controls (p < 0.00001). In a small group of eight treatment-naïve subjects with FD-related mutations, we found altered levels of oxidative stress parameters and incipient signs of organ damage despite normal lyso-Gb3 levels.

conclusionsOxidative stress occurs in FD in both treated and naïve patients, highlighting the need of further research in oxidative stress-targeted therapies. Furthermore, we found that oxidative stress biomarkers may represent early markers of disease in treatment-naïve patients with a potential role in helping interpretation of FD-related mutations and time to treatment decision.

Indexed as

Fabry Diseasealpha-GalactosidaseBiomarkersHumansMutationOxidative Stressalpha-GalactosidaseBiomarkersBiomarkersFabry diseaselysoGb3Oxidative stress

Identifiers

PMID32719972
PMCPMC7674365
OpenAlexW3044051052

What OpenQuestion holds

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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.