Evidence map›Paper›PMID 41727768›Full record

ArticleFrontiers in pediatrics2026

Case Report:

Zhenzhen Chen, Landi Lai, Xiaomei Lu, Bomao Zhong, Qi Peng, Ziqiang Liu

Abstract readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 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.

Zhenzhen ChenChild Healthcare Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.
Landi LaiChildren's Health Care Department, Dongguan Gaobu Hospital, Dongguan, Guangdong, China.
Xiaomei LuLaboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.
Bomao ZhongLaboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.
Qi PengLaboratory Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.
Ziqiang LiuChild Healthcare Department, Dongguan Children's Hospital, Dongguan, Guangdong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: To report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to riboflavin therapy. Methods: We conducted a retrospective analysis of three pediatric cases, integrating detailed clinical phenotyping with comprehensive genetic analysis (including whole-exome/targeted sequencing, Sanger validation, and ACMG-based variant interpretation). To elucidate genotype-phenotype correlations, we interpreted these findings in the context of a literature review. Results: All three patients carried compound heterozygous variants in the Conclusion: This case series provides detailed longitudinal data on riboflavin-responsive PRCA as a core presenting feature of BVVLS2 and reports rare

Indexed as

Brown-Vialetto-Van Laere syndrome type 2neurodegenerative diseasepure red cell aplasiariboflavin transporter deficiencyriboflavin treatmentSLC52A2 gene variant

Identifiers

PMID41727768
PMCPMC12916618

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.