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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51767Source: DataRank Database

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome is a research paper published in Annals of Clinical and Translational Neurology (2023). On theSindex it has a DataRank of 0. It has been cited 8 times.

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Open Access8 citations

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Enrichment:Funding (6 grants)OA: goldTopics (33)IDs (PubMed)

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Authors (15)

Brian X. León-Ricardo,Kevin McCall,Elvisa Mehinovic ORCID,Kristin Engelstad ORCID,Vincent Huynh ORCID

Live enrichment

PubMed:37000947

National Institutes of Health

Grant: P50 HD103525

National Institutes of Health

Grant: 5P50HD103525-03

Washington University Intellectual and Developmental Disabilities Research Center

National Institutes of Health

Grant: 1UL1TR002345-01

Washington University Institute of Clinical and Translational Sciences

National Institutes of Health

Grant: 1R01AR067715-01

Genetic Risk Factors for Severe Scoliosis

NIAMS NIH HHS

Grant: R01 AR067715

NCATS NIH HHS

Grant: UL1 TR002345

goldLicense: cc-by-nc-nd

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.51767

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51767

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC10187726/pdf/ACN3-10-787.pdf

repositoryhttps://digitalcommons.wustl.edu/oa_4/2754

repositoryhttps://doaj.org/article/8965eaa1967a46efa6f51cdbea956310

Fields of Study

0303 health sciences03 medical and health sciencesMonosaccharide Transport ProteinsMutation, MissensePhenotypeHumansCarbohydrate Metabolism, Inborn ErrorsGlucose Transporter Type 1Glut1 Deficiency Syndrome

MeSH Terms

Monosaccharide Transport ProteinsMutation, MissensePhenotypeHumansCarbohydrate Metabolism, Inborn ErrorsGlucose Transporter Type 1

Keywords

Glucose Transporter Type 1Monosaccharide Transport ProteinsInborn ErrorsICTS (Institute of Clinical and Translational Sciences)Mutation, Missense610Neurosciences. Biological psychiatry. NeuropsychiatryPhenotypeMutationMedicine and Health SciencesCarbohydrate MetabolismHumansNeurology. Diseases of the nervous systemMissenseRC346-429Research ArticlesRC321-571Carbohydrate Metabolism, Inborn Errors