Evidence map›Paper›PMID 39328593›Full record

ArticleFrontiers in pediatrics2024

In-depth analysis of

Qingyang Hu, Haiming Chen, Tianyi Liu, Xue Dong, Xuejiao Hu, Wenxin Yan, Zhong Li

Abstract read
In one paragraph

Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

7 authors.

Qingyang Hu *Department of Pharmacy, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Haiming Chen *Department of Emergency, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Tianyi LiuDepartment of Pharmacy, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Xue DongDepartment of Pharmacy, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Xuejiao HuDepartment of Pharmacy, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Wenxin YanDepartment of Pharmacy, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.
Zhong LiDepartment of Pharmacy, Dalian Women and Children's Medical Group, Dalian, Liaoning, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Ornithine transcarbamylase deficiency (OTCD), a rare hereditary disease caused by gene mutation of ornithine transcarbamylase ( Methods: We presented a case of a child diagnosed with OTCD (OMIM: 311250). By using whole-genome sequencing (WGS) for the pedigree and in-depth whole-exome sequencing (WES), we aimed to identify the disease-causing genes. Gene mutation prediction tools were employed to verify the pathogenicity, and the molecular dynamics simulation method was utilized to assess the impact of this mutation on the activity and structural stability of the Results: Whole-exome sequencing detected an Conclusion: This study deepens our understanding of the clinical manifestations and characteristics of OTCD, especially the

Indexed as

hyperammonemiamolecular dynamics simulationornithine transcarbamylase deficiencyurea cycle disorderX-linked disorder

Identifiers

PMID39328593
PMCPMC11424443

What OpenQuestion holds

Textmetadata
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.