Evidence map›Paper›PMID 37986659›Full record

ArticleZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2023

Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.

Zhanming Zhang, Fan Tong, Chi Chen, Ting Zhang, Guling Qian, Xin Yang, Xinwen Huang, Rulai Yang, Zhengyan Zhao

Open access · diamondAbstract 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, 2023. 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
0.2field-weighted citation impact, top 40% 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, 1 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

9 authors at 1 institution in 1 country.

Zhanming ZhangDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China. chzzm@zju.edu.cn.
Fan TongDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China.
Chi ChenDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China.
Ting ZhangDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China.
Guling QianDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China.
Xin YangDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China.
Xinwen HuangDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China.
Rulai YangDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China.
Zhengyan ZhaoDepartment of Genetic and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health, Hangzhou 310052, China. zhaozy@zju.edu.cn.
Children's Hospital of Zhejiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo investigate genotype-phenotype characteristics and long-term prognosis of neonatal carbamoyl phosphate synthetase 1 (CPS1) deficiency among children through newborn screening in Zhejiang province.

methodsThe clinical and follow-up data of children with CPS1 deficiency detected through neonatal screening and confirmed by tandem mass spectrometry and genetic testing in Zhejiang Province Newborn Disease Screening Center from September 2013 to August 2023 were retrospectively analyzed.

resultsA total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and genetic testing. Ten different variations of

conclusionsLow citrulline levels and hyperammonemia are common in CPS1 deficiency patients in Zhejiang. Most gene variants identified were specific to individual families, and no hotspot mutations were found. Early diagnosis through newborn screening and following standardized treatment can significantly improve the prognosis of the patients.

Indexed as

Carbamoyl-Phosphate Synthase I Deficiency DiseaseHyperammonemiaChildCitrullineFollow-Up StudiesHumansInfant, NewbornMutationNeonatal ScreeningRetrospective StudiesCitrullineCarbamyl phosphate synthetase 1 deficiencyFollow-up studiesGenotypeNewborn screeningPhenotypePrognosis

Identifiers

PMID37986659
PMCPMC10764181
OpenAlexW4388672786

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.