Evidence map›Paper›PMID 40004480›Full record

ReviewGenes2025

Genetic Insights and Clinical Implications of

Mei-Ling Peng, Siu-Fung Chau, Jia-Ying Chien, Peng-Yeong Woon, Yu-Chen Chen, Wai-Man Cheang, Hsien-Yang Tsai, Shun-Ping Huang

Abstract readReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Review
  6. 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.

Mei-Ling PengDepartment of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan.
Siu-Fung ChauDepartment of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan.
Jia-Ying ChienDepartment of Biochemical Science and Technology, National Chiayi University, Chiayi 600355, Taiwan.ORCID 0000-0001-8631-0832
Peng-Yeong WoonDepartment of Molecular Biology and Human Genetics, Tzu Chi University, Hualien 970374, Taiwan.ORCID 0009-0002-3469-6651
Yu-Chen ChenDepartment of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan.
Wai-Man CheangDepartment of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan.
Hsien-Yang TsaiDepartment of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan.
Shun-Ping HuangDepartment of Ophthalmology, Taichung Tzu Chi Hospital, Taichung 427213, Taiwan.ORCID 0000-0002-6060-3095

Funding

Tzu Chi Medical Foundation and Tzu Chi University TCAS-107-02 and TCAS-112-01
6 · The paper itself

Abstract

Sialidosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the

Indexed as

MucolipidosesMutationNeuraminidaseGenetic Association StudiesGenetic TherapyHumansNEU1 protein, humanNeuraminidaseenzyme replacement therapygene therapygenetic heterogeneitylysosomal storage disorderNEU1sialidosis

Identifiers

PMID40004480
PMCPMC11855786

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.