Evidence map›Paper›PMID 40104079›Full record

ArticleClinical case reports2025

Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report.

Kundan Kumar Yadav, Milan Pokhrel, Geeta Bashyal, Shankar Pokharel, Santoshi Pokharel Kunwar

Abstract read
In one paragraph

Article in Clinical case reports, 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.

Kundan Kumar YadavMaharajgunj Medical Campus Institute of Medicine, Tribhuvan University Kathmandu Nepal.ORCID https://orcid.org/0009-0004-5649-625X
Milan PokhrelMaharajgunj Medical Campus Institute of Medicine, Tribhuvan University Kathmandu Nepal.ORCID https://orcid.org/0009-0003-4723-6045
Geeta BashyalDepartment of Pediatrics Maharajgunj Medical Campus, Institute of Medicine, Tribhuvan University Kirtipur Nepal.
Shankar PokharelKathmandu Medical College and Teaching Hospital Kathmandu Nepal.
Santoshi Pokharel KunwarNepal Army Institute of Health Sciences-College of Medicine Kathmandu Nepal.ORCID https://orcid.org/0000-0003-2985-9794

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This report presents a 13-year-old male with abnormal body movements, generalized body weakness, and developmental regression who was further evaluated to conclude type 2 Sialidosis as the diagnosis. Genetic testing is key in diagnosing such rare conditions, and management is difficult, particularly in resource-limited settings.

Indexed as

autosomal recessivecase reportmucolipidosispediatricsSialidosis

Identifiers

PMID40104079
PMCPMC11913729

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.