Evidence map›Paper›PMID 41551113›Full record

ArticleSAGE open medical case reports2026

Ethylmalonic encephalopathy caused by biallelic truncating variants in ETHE1: A case report.

Delmer-Alejandro Ruiz-Martinez, Emilio-Rodrigo Vega-Peniche, Yazmin Quiñonez-Pacheco, Hugo Laviada-Molina, Carlos-Alejandro Medina-Campos, Felix-Julian Campos-Garcia

Abstract readCase Reports
In one paragraph

Article in SAGE open medical case reports, 2026. 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.

Delmer-Alejandro Ruiz-MartinezSchool of Medical Sciences, Marista University, Merida, YUC, Mexico.
Emilio-Rodrigo Vega-PenicheSchool of Medical Sciences, Marista University, Merida, YUC, Mexico.
Yazmin Quiñonez-PachecoDepartment of Pediatrics, Yucatan Health Services, General Hospital "Dr. Agustin O'Horan", Merida, YUC, Mexico.
Hugo Laviada-MolinaCentro de Investigación en Salud Basada en Evidencia, Marista University, Merida, YUC, Mexico.
Carlos-Alejandro Medina-CamposDepartment of Pediatrics, Yucatan Health Services, General Hospital "Dr. Agustin O'Horan", Merida, YUC, Mexico.ORCID https://orcid.org/0009-0008-8676-2263
Felix-Julian Campos-GarciaDepartment of Genetics, Yucatan Health Services, General Hospital "Dr. Agustin O'Horan", Merida, YUC, Mexico.ORCID https://orcid.org/0000-0001-9332-0289

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by biallelic pathogenic variants in

Indexed as

ETHE1ethylmalonic encephalopathymitochondrial disease

Identifiers

PMID41551113
PMCPMC12804648

What Socratic 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 Socratic graph.