Evidence map›Paper›PMID 41459346›Full record

ReviewMolecular genetics and metabolism reports2025

A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.

Francesca Cappozzo, Mariasavina Severino, Elena Gennaro, Francesca Faravelli, Marina Martinez Popple, Maria Cristina Schiaffino, Annalisa Madeo, Alessandro La Rosa

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism 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. Review
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

8 authors.

Francesca CappozzoDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy.
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Elena GennaroU.O.C. Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Francesca FaravelliClinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Marina Martinez PoppleChild Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Maria Cristina SchiaffinoPediatric Clinic, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Annalisa MadeoPediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Alessandro La RosaPediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Infantile sialic acid storage disorder (ISSD) represents the most severe form of free sialic acid storage disease (FSASD), a rare lysosomal storage disorder caused by mutations in

Indexed as

Brain MRIFSASDHypomyelinationHyporegenerative anemiaInfantile sialic acid storage disorderNephrotic syndromeNeuroimagingSLC17A5

Identifiers

PMID41459346
PMCPMC12743418

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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.