Evidence map›Paper›PMID 34394177›Full record

ArticleFrontiers in genetics2021

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Jianqiang Tan, Dayu Chen, Rongni Chang, Lizhen Pan, Jinling Yang, Dejian Yuan, Lihua Huang, Tizhen Yan, Haiping Ning, Jiangyan Wei and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 4 pooled it
3.7field-weighted citation impact, top 6% 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

20 citing papers in PubMed, 4 syntheses or guidelines pooled it, 36 citations in OpenAlex.

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  20. Actualities in neonatal endocrine and metabolic screening.Acta endocrinologica (Bucharest, Romania : 2005)
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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

11 authors at 2 institutions in 1 country.

Jianqiang TanKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Dayu ChenKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Rongni ChangKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Lizhen PanKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Jinling YangKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Dejian YuanKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Lihua HuangKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Tizhen YanKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Haiping NingKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Jiangyan WeiKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Ren CaiKey Laboratory of Prevention and Control of Birth Defects, Department of Medical Genetics, Newborn Screening Center, Liuzhou Maternity and Child Health Care Hospital, Liuzhou Institute for Reproduction and Genetics, Affiliated Maternity Hospital and Affiliated Children's Hospital of Guangxi University of Science and Technology, Liuzhou, China.
Guangxi University of Science and Technology · CNLiuzhou Maternal and Child Health Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spectrometry (MS/MS) is an effective method for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. A total of 111,986 healthy newborns and 7,461 hospitalized high-risk infants were screened for IEMs using MS/MS to understand the characteristics of IEMs and related gene mutations in newborns and high-risk infants in Liuzhou. Positive samples were analyzed by Sanger sequencing or next-generation sequencing. The results showed that the incidence of IEMs in newborns in the Liuzhou area was 1/3,733, and the incidence of IEMs in high-risk infants was 1/393. Primary carnitine deficiency (1/9,332), phenylketonuria (1/18,664), and isovaleric acidemia (1/37,329) ranked the highest in neonates, while citrullinemia type II ranked the highest in high-risk infants (1/1,865). Further, 56 mutations of 17 IEMs-related genes were found in 49 diagnosed children. Among these,

Indexed as

disease spectrumgenetic characteristicsgenetic mutationinborn errors of metabolismincidence of IEMstandem mass spectrometry

Identifiers

PMID34394177
PMCPMC8355895
OpenAlexW3184910804

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.