ArticleInternational journal of molecular sciences2022
Molecular Genetics of GLUT1DS Italian Pediatric Cohort: 10 Novel Disease-Related Variants and Structural Analysis.
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.European journal of pediatrics · 2024Pooled it
- Identification of new ER-targeted anticancer hits active against MCF-7 breast cancer cells in the marine fungal secondary metabolite library using computative and experimental approaches.Journal of computer-aided molecular design · 2026Article
- Glucose Transporter Deficiency Syndrome Type 1 (Glut1-DS): New Insights From a Brazilian Cohort of Patients.JIMD reports · 2026Article
- Glucose transporter 1 deficiency impairs glucose homeostasis, cell proliferation, and morphology in human embryonic kidney cells 293.Cell and tissue research · 2026Article
- Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.World journal of pediatrics : WJP · 2025Article
- The relationship between genotype and phenotype in Chinese children with glucose transporter type 1 deficiency syndrome.Frontiers in neurology · 2025Article
- Expression assay of calcium signaling related lncRNAs in autism.Molecular biology reports · 2024Article
- Clinical and genetic analysis of children with glucose transporter type 1 deficiency syndrome.Medicine internationalArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GLUT1 deficiency syndrome (GLUT1DS1; OMIM #606777) is a rare genetic metabolic disease, characterized by infantile-onset epileptic encephalopathy, global developmental delay, progressive microcephaly, and movement disorders (e.g., spasticity and dystonia). It is caused by heterozygous mutations in the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.