Evidence map›Paper›PMID 42509908›Full record

ArticleChildren (Basel, Switzerland)2026

Delayed Diagnosis of Mild GLUT1 Deficiency Syndrome Caused by an Apparently De Novo SLC2A1 p.(Phe445del) Variant in a Child with a History of Severe Neonatal Hyperkalemia.

Simona Ivančan, Maruša Debeljak, Tanja Loboda, Štefan Grosek

Abstract readCase Reports
In one paragraph

Article in Children (Basel, Switzerland), 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

4 authors.

Simona IvančanDepartment of Pediatric Hematology and Oncology, University Children's Hospital Ljubljana, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Maruša DebeljakDepartment of Pediatrics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Tanja LobodaDepartment of Child, Adolescent and Developmental Neurology, University Children's Hospital Ljubljana, University Medical Centre, 1525 Ljubljana, Slovenia.
Štefan GrosekDepartment of Pediatrics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.ORCID 0000-0001-5352-8173

Funding

Slovenian Research Agency (SRA) P3-0458
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ADHDapparently de novo variantGLUT1 deficiency syndromehyperkalemianeurocognitive phenotypeSLC2A1whole-exome sequencing

Identifiers

PMID42509908
PMCPMC13407391

What OpenQuestion holds

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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.