ReviewThe Journal of international medical research2023
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Review in The Journal of international medical research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 3 citations in OpenAlex.
- Genotype-phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital.Molecular genetics and metabolism reports · 2026Article
- Hepatocyte-specific Cas9-mediated editing of G6pc and Slc37a4 elicits comparable biochemical and regulatory responses between glycogen storage disease (GSD) type Ia and Ib mice.Molecular metabolism · 2026Article
- Structural basis for substrate recognition and inhibition of human glucose-6-phosphate transporter SLC37A4.PLoS biology · 2026Article
- Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.Nature communications · 2025Article
- Copper Pyrithione Induces Hepatopancreatic Apoptosis and Metabolic Disruption inAnimals : an open access journal from MDPI · 2025Article
- Empagliflozin in children with glycogen storage disease-associated inflammatory bowel disease: a prospective, single-arm, open-label clinical trial.Scientific reports · 2024Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycogen storage disease type 1b (GSD1b) is a rare genetic disorder, resulting from mutations in the SLC37A4 gene located on chromosome 11q23.3. Although the SLC37A4 gene has been identified as the pathogenic gene for GSD1b, the complete variant spectrum of this gene remains to be fully elucidated. In this study, we present three patients diagnosed with GSD1b through genetic testing. We detected five variants of the SLC37A4 gene in these three patients, with three of these mutations (p. L382Pfs*15, p. G117fs*28, and p. T312Sfs*13) being novel variants not previously reported in the literature. We also present a literature review and general overview of the currently reported SLC37A4 gene variants. Our study expands the mutation spectrum of SLC37A4, which may help enable genetic testing to facilitate prompt diagnosis, appropriate intervention, and genetic counseling for affected families.
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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 Socratic graph.