Evidence map›Paper›PMID 37274081›Full record

ArticleGlobal medical genetics2023

N Sreedevi, N Swapna, Santosh Maruthy, H S Meghavathi, Charles Sylvester

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

Article in Global medical genetics, 2023. 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
0.9field-weighted citation impact, top 20% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Strokelike Episodes inGlobal medical genetics · 2023
    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

5 authors at 1 institution in 1 country.

N SreedeviDepartment of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, India.
N SwapnaDepartment of Speech-Language Pathology, All India Institute of Speech and Hearing, Mysore, Karnataka, India.
Santosh MaruthyDepartment of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, India.
H S MeghavathiUnit for Human Genetics, All India Institute of Speech and Hearing, Mysore, Karnataka, India.
Charles SylvesterUnit for Human Genetics, All India Institute of Speech and Hearing, Mysore, Karnataka, India.ORCID 0000-0003-0724-3817
Dr. S.R. Chandrasekhar Institute of Speech and Hearing · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient, a 12-year-old girl born to healthy consanguineous parents, was diagnosed with cerebral palsy as a child. The affected patient has hypotonia, inadequate speech, strabismus, and developmental delay with mild mental retardation, which are key symptoms of CDG. Whole-exome sequencing (WES) identified the known missense pathogenic variant

Indexed as

cerebral palsymutationPMM2 -CDGSouth India

Identifiers

PMID37274081
PMCPMC10234699
OpenAlexW4379052501

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.