Evidence map›Paper›PMID 42638834›Full record

ArticleJIMD reports2026

Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.

Lívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, Claudia F Lorea, Helio van der Linden Júnior, Andréa C S Leite, Rayana Elias Maia, Lilia Farret, Carolina F Moura de Souza, Soraia Poloni, Fabiano O Poswar and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2026. 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

12 authors.

Lívia Maria Ferreira SobrinhoPostgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS) Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0003-4816-3899
Juliana Cristine FontanaClinical Research Center Hospital de Clínicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0002-1838-7800
Claudia F LoreaPostgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS) Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0002-4653-3051
Helio van der Linden JúniorDr. Henrique Santillo Rehabilitation Center Goiânia Goiás Brazil.ORCID https://orcid.org/0000-0002-3123-2264
Andréa C S LeiteNeuro Kids Clinic Montes Claros Minas Gerais Brazil.ORCID https://orcid.org/0009-0000-9712-4285
Rayana Elias MaiaDepartment of Pediatrics and Genetics Federal University of Paraíba João Pessoa Paraíba Brazil.ORCID https://orcid.org/0000-0002-8574-0168
Lilia FarretMedical Genetics Service Hospital de Clínicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0002-0306-6131
Carolina F Moura de SouzaClinical Research Center Hospital de Clínicas de Porto Alegre Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0002-7280-6260
Soraia PoloniPostgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS) Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0003-4506-6487
Fabiano O PoswarPostgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS) Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0002-0804-2876
Ida Vanessa D SchwartzPostgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS) Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0002-7933-6687
Fernanda Sperb-LudwigPostgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS) Porto Alegre Rio Grande do Sul Brazil.ORCID https://orcid.org/0000-0002-2460-7064

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glucose transporter deficiency syndrome type 1 (Glut1-DS) is a rare neurometabolic disorder caused by pathogenic variants in

Indexed as

developmental disabilitiesGeneticGLUT1 deficiency syndromeketogenic dietSLC2A1

Identifiers

PMID42638834
PMCPMC13500214

What OpenQuestion holds

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Registered trials

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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.