Evidence map›Paper›PMID 37969118›Full record

ArticleTranslational pediatrics2023

Newborn ornithine carbamyltransferase deficiency caused by new

Aizhen Yu, Di Gao, Senyan Zeng, Lingzhu Huang, Fuman Jiang, Xue Feng

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

Article in Translational pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 37% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
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

6 authors at 2 institutions in 1 country.

Aizhen Yu *Department of Neonatology, Shenzhen Children's Hospital, Shenzhen, China.
Di Gao *Department of Neonatology, Shenzhen Children's Hospital, Shenzhen, China.
Senyan ZengDepartment of Neonatology, Shenzhen Children's Hospital, Shenzhen, China.
Lingzhu HuangDepartment of Neonatology, Shenzhen Children's Hospital, Shenzhen, China.
Fuman JiangShenzhen Jingke Genetic Science and Technology Co. Ltd, Shenzhen, China.
Xue FengDepartment of Neonatology, Shenzhen Children's Hospital, Shenzhen, China.
Shenzhen Children's Hospital · CNBeike Biotechnology (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Ornithine carbamyltransferase deficiency (OTCD) is the most common urea cycle disorder disease. Neonatal-type cases usually involve a serious condition, including the complete loss of ornithine carbamyltransferase (OTC) enzyme activities. Case Description: Case 1: A 3-day-old boy was hospitalized due to decreased muscle tone over three days, 10 hours of dyspnea, and two instances of convulsions. Diagnostic tests showed elevated blood ammonia levels, decreased citrulline concentration via mass spectrometry (MS/MS), and increased orotic acid observed by gas chromatography-mass spectrometry (GC/MS), while uracil was normal. Head ultrasound revealed abnormal brain parenchyma, indicating brain damage. Whole exon gene sequencing detected a new pathogenic mutation [c. 961T > C (p.Ser321Pro)] in the Conclusions: This study improves our understanding of the clinical characteristics and

Indexed as

case reportgene mutationnewbornOrnithine carbamyltransferase deficiency (OTCD)

Identifiers

PMID37969118
PMCPMC10644015
OpenAlexW4388158249

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.