Evidence map›Paper›PMID 38455531›Full record

ArticleHeliyon2024

A novel

Xinjie Zhang, Xiaowei Xu, Jianbo Shu, Xiufang Zhi, Hong Wang, Yan Dong, Wenchao Sheng, Dong Li, Yingtao Meng, Chunquan Cai

Open access · goldAbstract read
In one paragraph

Article in Heliyon, 2024. 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, top 97% of its field
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, 0 citations in OpenAlex.

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

10 authors at 3 institutions in 1 country.

Xinjie ZhangTianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
Xiaowei XuTianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
Jianbo ShuTianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
Xiufang ZhiGraduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin, 300070, China.
Hong WangDepartment of Neurology, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
Yan DongGraduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin, 300070, China.
Wenchao ShengGraduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin, 300070, China.
Dong LiDepartment of Neurology, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
Yingtao MengTianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
Chunquan CaiTianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
Tianjin University · CNTianjin Medical University · CNTianjin Children's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Methylmalonic acidemia (MMA) is a rare inborn genetic disorder that is characterized by increased levels of methylmalonic acid in blood plasma and urine. Isolated methylmalonic acidemia is one of the most common types of MMA and is caused by mutations in the gene encoding methyl-malonyl coenzyme A mutase ( Methods: PCR amplification and Sanger sequencing analysis was performed to identify variants in the Results: The 3-year-old patient was admitted to the hospital with symptoms of MMA, including fever, convulsions, and vomiting. He showed metabolic acidosis, high levels of methylmalonic acid in blood and urine, and normal blood homocysteine levels. Genetic analysis demonstrated that the patient was a compound heterozygous carrier of two variants in the Conclusions: We identified a novel splice site variant that partially disrupts normal splicing of the

Indexed as

Methylmalonic acidemiaMMUT geneRNA splice sitesRNA splicingVariant

Identifiers

PMID38455531
PMCPMC10918191
OpenAlexW4392142222

What OpenQuestion 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 OpenQuestion graph.