Evidence map›Paper›PMID 33437642›Full record

ArticleMolecular genetics and metabolism reports2021

Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.

Marina Dutra-Clarke, Daisy Tapia, Emily Curtin, Dennis Rünger, Grace K Lee, Anita Lakatos, Zyza Alandy-Dy, Linda Freedkin, Kathy Hall, Nesrin Ercelen and 5 more

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

Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 22% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026
    Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024
    Observational
  11. Article
  12. Article
  13. Novel enhancer mediates theFrontiers in genetics · 2023
    Article
  14. 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

15 authors at 3 institutions in 2 countries.

Marina Dutra-ClarkeDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Daisy TapiaDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Emily CurtinDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Dennis RüngerDepartment of Medicine Statistics Core, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Grace K LeeDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Anita LakatosDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Zyza Alandy-DyDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Linda FreedkinDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Kathy HallDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Nesrin ErcelenDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Jousef Alandy-DyDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Margaret KnightDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
Madeleine PahlDivision of Nephrology, Department of Medicine, University of California, Irvine, CA, USA.
Dawn LombardoDivision of Cardiology, Department of Medicine, University of California, Irvine, CA, USA.
Virginia KimonisDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Irvine, CA, USA.
University of California, Irvine · USAmerikan Hastanesi · TRUniversity of California, Los Angeles · US

Funding

UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
University of California Health Participation in the National COVID Cohort Collaborative (N3C)UL1TR001414 · NCATS · UNIVERSITY OF CALIFORNIA-IRVINE · PI COOPER, DAN M, VILAIN, ERIC J. · 2015 to 2023
$35.1M
NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001414NCATS NIH HHS UL1 TR001881
6 · The paper itself

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A due to mutations in the

Indexed as

Agalsidase betaEnzyme replacement therapyFabry diseaseGL-3GLA geneGlobotriaosylceramide

Identifiers

PMID33437642
PMCPMC7788237
OpenAlexW3117852235

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.