Evidence map›Paper›PMID 40115456›Full record

ArticleTranslational pediatrics2025

A novel polyribonucleotide nucleotidyltransferase 1 (

Yan-Yan Li, Yan Gao, Xiong-Xiong Zhong, Guang-Fu Chen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 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

4 authors.

Yan-Yan Li *Department of Child Neurological Rehabilitation, Longhua District Maternal and Child Health Hospital, Shenzhen, China.
Yan Gao *Department of Child Neurological Rehabilitation, Longhua District Maternal and Child Health Hospital, Shenzhen, China.
Xiong-Xiong ZhongDepartment of Child Neurological Rehabilitation, Longhua District Maternal and Child Health Hospital, Shenzhen, China.
Guang-Fu ChenDepartment of Child Neurological Rehabilitation, Longhua District Maternal and Child Health Hospital, Shenzhen, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Combined oxidative phosphorylation deficiency 13 (COXPD13) results from mutations in the mitochondrial polyribonucleotide nucleotidyltransferase 1 ( Case Description: Here, we presented a case of a Chinese boy exhibiting multiple organ damage, white matter changes, epilepsy, abnormalities in muscle tone and strength, global developmental delay, growth retardation, and visual and auditory impairment. The patient also showed elevated lactate levels in the plasma. Furthermore, whole-exome sequencing (WES) revealed a homozygous mutation, c.1033A>G (p.K345E), in the Conclusions: The novel

Indexed as

Case reportcombined oxidative phosphorylation deficiency 13 (COXPD13)mitochondrialpolyribonucleotide nucleotidyltransferase 1 gene (PNPT1 gene)whole-exome sequencing (WES)

Identifiers

PMID40115456
PMCPMC11921403

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.