Glut1 Deficiency

Glut1 Deficiency, an autosomal dominant, genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier, is characterized by mental and motor developmental delays and infantile seizures. Here is the latest research on Glut1 Deficiency.

December 1, 2020
Open Access

A ligand-based computational drug repurposing pipeline using KNIME and Programmatic Data Access: case studies for rare diseases and COVID-19

Journal of Cheminformatics
Alzbeta Tuerkova, Barbara Zdrazil
September 29, 2020
Case Report
Open Access

A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy

Journal of Epilepsy Research
Hussein AlgahtaniMuhammad Imran Naseer
October 13, 2019
Review
Open Access

Glucose transporter type 1 deficiency syndrome and the ketogenic diet

Journal of Inherited Metabolic Disease
Marit SchwantjeSabine A Fuchs
July 9, 2020
Case Report
Open Access

Language regression, hemichorea and focal subclinical seizures in a 6-year-old girl with GLUT-1 deficiency

Epilepsy & Behavior Reports
Alexandra M WoodAhmad Marashly
July 7, 2020
Open Access

Both aerobic glycolysis and mitochondrial respiration are required for osteoclast differentiation

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
Boer LiFanxin Long
August 28, 2019
Correction
Open Access

Correction to: Clinical approach to neurodegenerative disorders in childhood: an updated overview

Acta neurologica Belgica
Mario Mastrangelo
February 7, 2020
Review
Open Access

Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome

The Journal of Membrane Biology
Mobeen Raja, Rolf K H Kinne
August 14, 2020
Review
Open Access

Glucose transporters in brain in health and disease

Pflügers Archiv : European journal of physiology
Hermann Koepsell
November 7, 2019

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome

Journal of Neurology, Neurosurgery, and Psychiatry
Elodie HainqueFanny Mochel
November 10, 2020
Review

Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review

Movement Disorders Clinical Practice
Janina Gburek-AugustatAndreas Merkenschlager
July 29, 2019
Open Access

Jeavons syndrome in a family with GLUT1-deficiency syndrome

Seizure : the Journal of the British Epilepsy Association
Priyanka MadaanSheffali Gulati
August 28, 2020
Open Access

A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet

Italian Journal of Pediatrics
Gianluca TorneseEgidio Barbi
June 28, 2020
Case Report

Glucose transporter type 1 deficiency syndrome associated with autoantibodies to glutamate receptors

Brain & Development
Hiroki HoshinoHideaki Kanemura
October 5, 2019
Open Access

Exogenous Ketones Lower Blood Glucose Level in Rested and Exercised Rodent Models

Nutrients
Csilla AriZsolt Kovacs
October 15, 2019
Preprint
Open Access

The Rho/Rac guanine nucleotide exchange factor Vav1 regulates HIF-1α; and GLUT-1 expression and glucose uptake in the brain

BioRxiv : the Preprint Server for Biology
Jaewoo HongP Charles Lin

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