Evidence map›Paper›PMID 29296186›Full record

ArticleOncotarget2017

Genetic variants associated with Fabry disease progression despite enzyme replacement therapy.

Francesca Scionti, Maria Teresa Di Martino, Simona Sestito, Angela Nicoletti, Francesca Falvo, Katia Roppa, Mariamena Arbitrio, Pietro Hiram Guzzi, Giuseppe Agapito, Antonio Pisani and 3 more

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.7field-weighted citation impact, top 16% 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

18 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Review
  11. Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.International journal of environmental research and public health · 2021
    Review
  12. Review
  13. Review
  14. Review
  15. DMETHigh-throughput · 2020
    Review
  16. Article
  17. Review
  18. Distinct Prognostic Values of Alcohol Dehydrogenase Family Members for Non-Small Cell Lung Cancer.Medical science monitor : international medical journal of experimental and clinical research · 2018
    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

13 authors at 2 institutions in 1 country.

Francesca Scionti *Department of Experimental and Clinical Medicine, Magna Graecia University, Salvatore Venuta University Campus, Catanzaro, Italy.
Maria Teresa Di Martino *Department of Experimental and Clinical Medicine, Magna Graecia University, Salvatore Venuta University Campus, Catanzaro, Italy.
Simona SestitoDepartment of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy.
Angela NicolettiDepartment of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy.
Francesca FalvoDepartment of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy.
Katia RoppaDepartment of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy.
Mariamena ArbitrioISN-CNR, Roccelletta di Borgia, Catanzaro, Italy.
Pietro Hiram GuzziDepartment of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Giuseppe AgapitoDepartment of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy.
Antonio PisaniDepartment of Nephrology, University Federico II, Naples, Italy.
Eleonora RiccioDepartment of Nephrology, University Federico II, Naples, Italy.
Daniela ConcolinoDepartment of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy.
Licia PensabeneDepartment of Medical and Surgical Sciences Pediatric Unit, Magna Graecia University, Catanzaro, Italy.
Magna Graecia University · ITFederico II University Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiovascular and cerebrovascular dysfunctions. Here, we investigated the involvement of drug absorption, distribution, metabolism, and excretion gene variants in response variability to ERT, genotyping 37 patients with the Affymetrix Drug Metabolizing Enzyme and Transporters (DMET) Plus microarray. We found three single nucleotide polymorphisms in human alcohol dehydrogenase (ADH)4 gene (rs1126670, rs1126671, rs2032349) and one in ADH5 gene (rs2602836) associated with disease progression (

Indexed as

ADH genesDMETenzyme replacement therapyFabry diseaseoxidative stress

Identifiers

PMID29296186
PMCPMC5746088
OpenAlexW2768943365

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.