Evidence map›Paper›PMID 42205978›Full record

ArticleMolecular genetics and metabolism reports2026

Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report.

Nicola Vitturi, Giorgia Gugelmo, Francesca Zanini, Gianni Carraro, Livia Lenzini, Andrea Leonardi

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism reports, 2026. 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

6 authors.

Nicola VitturiDivision of Metabolic Diseases, Department of Medicine, University Hospital of Padua, Padua, Italy.
Giorgia GugelmoDivision of Metabolic Diseases, Department of Medicine, University Hospital of Padua, Padua, Italy.
Francesca ZaniniDepartment of Neurosciences, Ophthalmology Unit, University of Padua, Padua, Italy.
Gianni CarraroDivision of Nephrology, Department of Medicine, University Hospital of Padua, Padua, Italy.
Livia LenziniDepartment of Medicine, University of Padua, Padua, Italy.
Andrea LeonardiDepartment of Neurosciences, Ophthalmology Unit, University of Padua, Padua, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sign. This case report examines the effect of migalastat on corneal deposits in a female who experienced therapy interruption during two pregnancies. It emphasizes the importance of multidisciplinary care with ophthalmologic follow-up and explores long-term effects of migalastat on corneal deposits and disease progression.

Indexed as

Cornea verticillataFabry diseaseIn vivo corneal confocal microscopyMigalastat

Identifiers

PMID42205978
PMCPMC13206647

What OpenQuestion holds

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Registered trials

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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.