Evidence map›Paper›PMID 39185018›Full record

ArticleMolecular genetics and metabolism reports2024

Clinical features and

Yunxi Chen, Qinghua Zhang, Lei Cao, Xuan Feng, Pengwu Lin, Shaohua Zhu, Furong Liu, Xing Wang, Shengju Hao, Yafei Cao and 2 more

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

Article in Molecular genetics and metabolism reports, 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. A Genetically Encoded Biosensor for Characterizing Transport and Metabolism of Glutarate.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025
    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

12 authors.

Yunxi ChenFirst School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou 730000, Gansu Province, China.
Qinghua ZhangMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Lei CaoDepartment of Pediatric Neurology, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Xuan FengMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Pengwu LinMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Shaohua ZhuMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Furong LiuMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Xing WangMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Shengju HaoMedical Genetics Center, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Yafei CaoFirst School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou 730000, Gansu Province, China.
Hongyan WangDepartment of Pediatric Neurology, Gansu Provincial Maternity and Child-care Hospital(Gansu Provincial Central Hospital), Lanzhou 730050, Gansu Province, China.
Yali NiFirst School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou 730000, Gansu Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aim: To analyze the clinical phenotype and genetic etiology of three cases of glutaric aciduria type 1 (GA1) in Chinese children. Methods: We performed genetic and metabolic testing using tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), followed by trio whole-exome sequencing (trio-WES) and Sanger sequencing. A literature review on glutaric aciduria type 1 (GA1) in Chinese patients was also conducted. Results: Sequencing results showed each case had compound heterozygous variants in Conclusion:

Indexed as

GCDH geneGlutaric aciduria type 1 (GA1)Novel variantTrio whole-exome sequencing (trio-WES)

Identifiers

PMID39185018
PMCPMC11344010

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.