Evidence map›Paper›PMID 27175306›Full record

ArticleIranian Red Crescent medical journal2016

First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

Ziba Soltani, Fatemeh Karami, Vahidreza Yassaee, Feyzollah Hashemi Gorji, Mahdieh Talebzadeh, Mohammad Miryounesi

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

Article in Iranian Red Crescent medical journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 88% 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, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
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.

Ziba SoltaniGenomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Fatemeh KaramiDepartment of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran.
Vahidreza YassaeeGenomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Feyzollah Hashemi GorjiGenomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Mahdieh TalebzadehGenomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Mohammad MiryounesiGenomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Shahid Beheshti University of Medical Sciences · IRTehran University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionPhenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%). CASE PRESENTATION: We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU.

conclusionsThis finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.

Indexed as

Gene DeletionPhenylalanine HydroxylasePhenylketonuria

Identifiers

PMID27175306
PMCPMC4862320
OpenAlexW2265453606

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.