Evidence map›Paper›PMID 40161167›Full record

ArticleCureus2025

Identification of an Ultra-Rare GLA Frameshift Variant in a South African Family With Hypertrophic Cardiomyopathy: A Case Report.

Timothy F Spracklen, Polycarp Ndibangwi, Ntobeko A B Ntusi, Sarah Kraus, Gasnat Shaboodien

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Timothy F SpracklenDepartment of Paediatrics and Child Health, University of Cape Town, Cape Town, ZAF.
Polycarp NdibangwiDepartment of Medicine, Cape Heart Institute, University of Cape Town, Cape Town, ZAF.
Ntobeko A B NtusiExtramural Unit of Noncommunicable and Infectious Diseases, South African Medical Research Council, Cape Town, ZAF.
Sarah KrausDivision of Cardiology, Department of Medicine, University of Cape Town, Cape Town, ZAF.
Gasnat ShaboodienDepartment of Medicine, Cape Heart Institute, University of Cape Town, Cape Town, ZAF.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry disease (FD) is an X-linked deficiency in glycosphingolipid metabolism caused by pathogenic variation in

Indexed as

clinical case reportfabry diseasesgla genehypertrophic cardiomyopathy (hcm)south africa

Identifiers

PMID40161167
PMCPMC11950793

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.