Evidence map›Paper›PMID 25793077›Full record

ArticleIranian journal of pediatrics2014

A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion.

Sedat Işıkay, Osman Başpınar, Kutluhan Yılmaz

Open access · greenAbstract readCase Reports
In one paragraph

Article in Iranian journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 39% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Novel Splicing Variant in theFrontiers in genetics · 2020
    Article
  3. Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018
    Review
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

3 authors at 2 institutions in 1 country.

Sedat IşıkayDepartment of Pediatric Neurology.
Osman BaşpınarDepartment of Pediatric Cardiology, Gaziantep Children's Hospital, Gaziantep.
Kutluhan YılmazDepartment of Pediatric Neurology, Medeniyet University, İstanbul, Turkey.
Gaziantep Children's Hospital · TRIstanbul Medeniyet University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInherited deficiency of phosophomannomutase (PMM2) causes a human glycosylation disorder known as Congenital Disorder of Glycosylation Ia. CASE PRESENTATION: Herein, we describe a case of congenital disorder of glycosylation Ia, presented with recurrent pericardial effusion and unusual findings of inverted nipples, fat pads, reduced deep-tendon reflexes and multisystem involvement.

conclusionCongenital Disorder of Glycosylation Ia should be considered in children with developmental delay, those with multi-system disease involving neurologic, gastrointestinal, ophthalmologic, cardiac or endocrine systems. On the other hand, severe cardiac involvement may also be a feature of Congenital Disorder of Glycosylation Ia and diagnosed patients should also be evaluated in this respect.

Indexed as

Congenital Disorder of Glycosylation IaDysmorphiaInborn Error of MetabolismPericardial Effusion

Identifiers

PMID25793077
PMCPMC4359423
OpenAlexW2115159517

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.