Evidence map›Paper›PMID 39720099›Full record

ArticleFrontiers in pediatrics2024

Case Report: A novel hemizygous missense

Thi Thanh Ngan Nguyen, Nguyen Ngoc Khanh, Chi Dung Vu, Ngoc-Lan Nguyen, Van Khanh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Duc Quan, Nguyen Thanh Hien, Tran Thi Huong Giang and 4 more

Abstract readCase Reports
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 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

14 authors.

Thi Thanh Ngan Nguyen *Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen Ngoc Khanh *Center of Endocrinology, Metabolism, Genetic/Genomics and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.
Chi Dung VuCenter of Endocrinology, Metabolism, Genetic/Genomics and Molecular Therapy, Vietnam National Children's Hospital, Hanoi, Vietnam.
Ngoc-Lan NguyenCenter for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
Van Khanh TranCenter for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
Nguyen Thi Kim LienInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen Van TungInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen Duc QuanInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen Thanh HienInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Tran Thi Huong GiangInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen Thi XuanInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Nguyen Thien TaoInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.
Tran Van KhoaDepartment of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, Vietnam.
Huy Hoang NguyenInstitute of Genome Research, Vietnam Academy of Science and Technology (VAST), Hanoi, Vietnam.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders. An abnormal E1-alpha protein originating from the

Indexed as

missense variantPDHA1pyruvate dehydrogenase E1-alpha deficiencyVietnamesewhole-exome sequencing

Identifiers

PMID39720099
PMCPMC11666387

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.