Evidence map›Paper›PMID 39202380›Full record

ArticleGenes2024

Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of

Yuqiao Ju, Yuan Zong, Xiao Li, Fengjuan Gao, Qing Chang, Xin Huang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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.

Yuqiao JuEye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
Yuan ZongEye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
Xiao LiEye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
Fengjuan GaoEye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
Qing ChangEye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.
Xin HuangEye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China.

Funding

National Natural Science Foundation of China 82070975National Natural Science Foundation of China 82101149National Natural Science Foundation of China 82201204Shanghai Science and Technology Development Foundation 21ZR1411400
6 · The paper itself

Abstract

This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with vitamin B6 supplementation was implemented; clinical assessments were repeated every 3 months during follow-up. The relative

Indexed as

Gyrate AtrophyHeterozygoteOrnithine-Oxo-Acid TransaminasePedigreePhenotypeAdultAllelesFemaleHumansMaleMiddle AgedRetrospective StudiesYoung AdultOAT protein, humanOrnithine-Oxo-Acid Transaminasealleleautosomal recessivecarriergyrate atrophy of the choroid and retina (GACR)OAT gene

Identifiers

PMID39202380
PMCPMC11353755

What OpenQuestion holds

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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.