Evidence map›Paper›PMID 41306646›Full record

ArticleCase reports in genetics2025

Kufor-Rakeb Syndrome in a Guatemalan Patient With an

Rebeca Méndez-Veras, Allan Urbizo, Julio Cabrera, Suzette Boburg

Abstract readCase Reports
In one paragraph

Article in Case reports in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

4 authors.

Rebeca Méndez-VerasInstituto de Investigaciones Químicas, Biológicas, Biomédicas y Biofísicas (I2QB3), Universidad Mariano Gálvez, Guatemala City, Guatemala.ORCID https://orcid.org/0000-0003-2929-1895
Allan UrbizoInstituto de Investigaciones Químicas, Biológicas, Biomédicas y Biofísicas (I2QB3), Universidad Mariano Gálvez, Guatemala City, Guatemala.
Julio CabreraFacultad de Medicina, Universidad Francisco Marroquín, Guatemala City, Guatemala.
Suzette BoburgInstituto de Investigaciones Químicas, Biológicas, Biomédicas y Biofísicas (I2QB3), Universidad Mariano Gálvez, Guatemala City, Guatemala.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Parkinson's disease (PD) is a neurodegenerative condition characterized by progressive loss of dopaminergic neurons and by heterogeneous etiologies and clinical manifestations. Juvenile-onset forms are rare and can be caused by biallelic mutations in several genes. Kufor-Rakeb syndrome (KRS) is an autosomal-recessive form of early-onset parkinsonism caused by pathogenic variants in the

Indexed as

ATP13A2autophagy–lysosome pathwayjuvenile-onset parkinsonismKufor–Rakeb syndrome

Identifiers

PMID41306646
PMCPMC12646730

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.