Evidence map›Paper›PMID 39822326›Full record

ArticleJIMD reports2025

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

Alison C Leslie, Jeanine Jarnes, Alia Ahmed, Sofia Shrestha, Jeffrey Wang, Chester B Whitley, Nishitha R Pillai

Abstract read
In one paragraph

Article in JIMD reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

7 authors.

Alison C LeslieUniversity of Minnesota Medical School Minneapolis Minnesota USA.ORCID https://orcid.org/0000-0002-9294-2702
Jeanine JarnesDivision of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Alia AhmedDivision of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Sofia ShresthaDivision of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Jeffrey WangDivision of Nephrology Hennepin County Medical Center Minneapolis Minnesota USA.
Chester B WhitleyDivision of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Nishitha R PillaiDivision of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.ORCID https://orcid.org/0000-0002-2943-2136

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry disease is an X-linked lysosomal disease caused by variants in the

Indexed as

Fabry diseasegenetic modifierskidney diseaseLyso‐GL‐3phenotypic variability

Identifiers

PMID39822326
PMCPMC11736146

What OpenQuestion holds

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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.