Evidence map›Paper›PMID 31901042›Full record

ArticleZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2019

[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].

Dingwen Wu, Bin Lu, Jianbin Yang, Rulai Yang, Xinwen Huang, Fan Tong, Jing Zheng, Zhengyan Zhao

Open access · greenAbstract read
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, 2019. 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 79% 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

8 authors at 2 institutions in 1 country.

Dingwen WuZhejiang Neonatal Screening Center, Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Bin LuZhejiang Biosan Biochemical Technologies Co. Ltd, Hangzhou 310012, China.
Jianbin YangZhejiang Neonatal Screening Center, Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Rulai YangZhejiang Neonatal Screening Center, Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Xinwen HuangZhejiang Neonatal Screening Center, Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Fan TongZhejiang Neonatal Screening Center, Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Jing ZhengZhejiang Neonatal Screening Center, Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Zhengyan ZhaoZhejiang Neonatal Screening Center, Department of Genetics and Metabolism, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.
Children's Hospital of Zhejiang University · CNHangzhou DAC Biotech (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo investigate the genetic characterization of 3-hydroxyisovalerylcarnitine (C5-OH) metabolic abnormality in neonates.

methodsFifty two newborns with increased C5-OH, C5-OH/C3 and C5-OH/C8 detected by tandem mass spectrometry during neonatal screening were enrolled in the study. Genomic DNA was extracted from the whole blood samples of 52 cases and their parents. Seventy-nine genes associated with genetic and metabolic diseases including

resultsTwenty one

conclusionsMutations on

Indexed as

Carbon-Carbon LigasesUrea Cycle Disorders, InbornCarnitineFemaleGenetic TestingGenetic VariationHumansInfant, NewbornMaleMutationNeonatal Screening3-hydroxyisovalerylcarnitineCarbon-Carbon LigasesCarnitineMCCC1 protein, humanmethylcrotonoyl-CoA carboxylase 2, human

Identifiers

PMID31901042
PMCPMC8800779
OpenAlexW3003460172

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.