Evidence map›Paper›PMID 33210482›Full record

ArticleZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2020

[Analysis of

Yaping Shen, Kai Yan, Minyue Dong, Rulai Yang, Xinwen Huang

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact, top 89% 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

3 citing papers in PubMed, 2 citations in OpenAlex.

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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

5 authors at 2 institutions in 2 countries.

Yaping ShenDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Medical Centre for Children, Hangzhou 310052, China.
Kai YanDepartment of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
Minyue DongDepartment of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
Rulai YangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Medical Centre for Children, Hangzhou 310052, China.
Xinwen HuangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Medical Centre for Children, Hangzhou 310052, China.
Children's Hospital of Zhejiang University · CNMinistry of Education · TH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo analyze the clinical phenotype and genetic characteristics of a family with combined oxidative phosphorylation deficiency 1 (COXPD-1).

methodsThe whole exome sequencing was performed in parents of the proband; and the genetic defects were verified by Sanger sequencing technology in the dried blood spot of the proband, the amniotic fluid sample of the little brother of proband, and the peripheral blood of the parents.

resultsWhole exome sequencing and Sanger validation showed compound heterozygous mutations of

conclusions

Indexed as

Hepatic EncephalopathyMetabolism, Inborn ErrorsMitochondrial ProteinsPeptide Elongation Factor GExome SequencingFatal OutcomeFemaleHumansInfantMaleMutationGFM1 protein, humanMitochondrial ProteinsPeptide Elongation Factor GCombined oxidative phosphorylation deficiency 1Congenital, hereditary, and neonatal diseases and abnormalitiesGFM1 geneMetabolic acidosisWhole exome sequencing

Identifiers

PMID33210482
PMCPMC8800753
OpenAlexW3098282010

What OpenQuestion holds

Textmetadata
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.