Evidence map›Paper›PMID 40365324›Full record

ArticleJIMD reports2025

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of

Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, Luísa Diogo, Isabel Gonçalves, Susana Nobre

Abstract read
In one paragraph

Article in JIMD reports, 2025. 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
–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

1 citing paper in PubMed.

  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.

Rita Marchante PitaDepartment of Pediatrics, Unidade Local de Saúde de Coimbra Portugal.ORCID https://orcid.org/0000-0002-6609-9205
Raquel AmaralDepartment of Pediatrics Hospital Divino Espírito Santo, Ponta Delgada Azores Portugal.
Laura VilarinhoDepartment of Human Genetics National Institute of Health Dr Ricardo Jorge Porto Portugal.
Luísa DiogoReference Center of Hereditary Metabolic Diseases, Unidade Local de Saúde de Coimbra Coimbra Portugal.
Isabel GonçalvesDepartment of Pediatrics, Unidade Local de Saúde de Coimbra Portugal.
Susana NobreDepartment of Pediatrics, Unidade Local de Saúde de Coimbra Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

MEGDHEL syndrome, caused by a

Indexed as

3‐methylglutaconic aciduriahepatopathyMEGDEL syndromeMEGDHEL syndromepediatricsSERAC1 gene

Identifiers

PMID40365324
PMCPMC12069853

What Socratic 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 Socratic graph.