GLUT1 deficiency (English Wikipedia)

"Brochures". GLUT1 deficiency Foundation. Retrieved 2018-01-25.
"Reaching for a brighter future" (PDF). GLUT1 deficiency Foundation. Archived from the original (PDF) on 2015-10-02. Retrieved 19 June 2017.
"Professional Guide" (PDF). GLUT1 deficiency Foundation. Archived from the original (PDF) on 2015-10-03. Retrieved 19 June 2017.
"Brochures". GLUT1 deficiency Foundation. Retrieved 2018-01-31.
"Professional Guide". GLUT1 deficiency Foundation. Archived from the original on 2018-02-01. Retrieved 2018-01-31.

ghostarchive.org

GLUT1 deficiency Foundation (2018-01-30), Dr. Umrao Monani, archived from the original on 2021-12-21, retrieved 2018-01-31{{citation}}: CS1 maint: numeric names: authors list (link)

metafora-biosystems.com

"Metafora | Diagnostics tests". www.metafora-biosystems.com (in French). Archived from the original on 2018-02-01. Retrieved 2018-01-31.

nih.gov

pubmed.ncbi.nlm.nih.gov

Symonds (2019). "Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort". Brain. 142 (8): 2303–2318. doi:10.1093/brain/awz195. PMC 6658850. PMID 31302675.
Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B (August 2008). "[GLUT-1 deficiency syndrome or De Vivo disease: a case report]". Arch Pediatr (in French). 15 (8): 1296–9. doi:10.1016/j.arcped.2008.04.024. PMID 18556184.
Wang, Dong; Pascual, Juan M.; De Vivo, Darryl (1993). "Glucose Transporter Type 1 Deficiency Syndrome". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Stephens, Karen; Amemiya, Anne (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301603.
Pearson, Toni S.; Pons, Roser; Engelstad, Kristin; Kane, Steven A.; Goldberg, Michael E.; Vivo, Darryl C. De (2017-04-25). "Paroxysmal eye–head movements in GLUT1 deficiency syndrome". Neurology. 88 (17): 1666–1673. doi:10.1212/WNL.0000000000003867. ISSN 0028-3878. PMC 5405761. PMID 28341645.
Klepper, Joerg (2020). "Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group". Epilepsia Open. 5 (3): 354–365. doi:10.1002/epi4.12414. PMC 7469861. PMID 32913944.
Solis, Elysandra M.; Good, Levi B.; Vázquez, Rafael Granja; Patnaik, Sourav; Hernandez-Reynoso, Ana G.; Ma, Qian; Angulo, Gustavo; Dobariya, Aksharkumar; Cogan, Stuart F.; Pancrazio, Joseph J.; Pascual, Juan M.; Jakkamsetti, Vikram (2023). "Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations". Frontiers in Neuroscience. 17: 1191492. doi:10.3389/fnins.2023.1191492. ISSN 1662-4548. PMC 10565352. PMID 37829723.
De Vivo, Darryl C.; Trifiletti, Rosario R.; Jacobson, Ronald I.; Ronen, Gabriel M.; Behmand, Ramin A.; Harik, Sami I. (5 September 1991). "Defective Glucose Transport across the Blood-Brain Barrier as a Cause of Persistent Hypoglycorrhachia, Seizures, and Developmental Delay". New England Journal of Medicine. 325 (10): 703–709. doi:10.1056/NEJM199109053251006. PMID 1714544.
Brockmann, Knut (2011-07-01). "Towards a more palatable treatment for GLUT1 deficiency syndrome". Developmental Medicine & Child Neurology. 53 (7): 580–581. doi:10.1111/j.1469-8749.2011.03946.x. ISSN 1469-8749. PMID 21585366.
Logel (2021). "Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome". Ann Clin Transl Neurol. 8 (11): 2205–2209. doi:10.1002/acn3.51462. PMC 8607448. PMID 34612610.

ncbi.nlm.nih.gov

Symonds (2019). "Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort". Brain. 142 (8): 2303–2318. doi:10.1093/brain/awz195. PMC 6658850. PMID 31302675.
Wang, Dong; Pascual, Juan M.; De Vivo, Darryl (1993). "Glucose Transporter Type 1 Deficiency Syndrome". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Stephens, Karen; Amemiya, Anne (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 20301603.
Pearson, Toni S.; Pons, Roser; Engelstad, Kristin; Kane, Steven A.; Goldberg, Michael E.; Vivo, Darryl C. De (2017-04-25). "Paroxysmal eye–head movements in GLUT1 deficiency syndrome". Neurology. 88 (17): 1666–1673. doi:10.1212/WNL.0000000000003867. ISSN 0028-3878. PMC 5405761. PMID 28341645.
Klepper, Joerg (2020). "Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group". Epilepsia Open. 5 (3): 354–365. doi:10.1002/epi4.12414. PMC 7469861. PMID 32913944.
Solis, Elysandra M.; Good, Levi B.; Vázquez, Rafael Granja; Patnaik, Sourav; Hernandez-Reynoso, Ana G.; Ma, Qian; Angulo, Gustavo; Dobariya, Aksharkumar; Cogan, Stuart F.; Pancrazio, Joseph J.; Pascual, Juan M.; Jakkamsetti, Vikram (2023). "Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations". Frontiers in Neuroscience. 17: 1191492. doi:10.3389/fnins.2023.1191492. ISSN 1662-4548. PMC 10565352. PMID 37829723.
Logel (2021). "Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome". Ann Clin Transl Neurol. 8 (11): 2205–2209. doi:10.1002/acn3.51462. PMC 8607448. PMID 34612610.

ghr.nlm.nih.gov

"GLUT1 deficiency syndrome". Genetics Home Reference. Retrieved 10 October 2011.
Reference, Genetics Home. "GLUT1 deficiency syndrome". Genetics Home Reference. Retrieved 2018-01-25.
Reference, Genetics Home. "GLUT1 deficiency syndrome". Genetics Home Reference. Retrieved 2017-06-15.

rarediseases.info.nih.gov

"Glucose transporter type 1 deficiency syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2018-02-01. Retrieved 2018-01-31.

web.archive.org

"Reaching for a brighter future" (PDF). GLUT1 deficiency Foundation. Archived from the original (PDF) on 2015-10-02. Retrieved 19 June 2017.
"Professional Guide" (PDF). GLUT1 deficiency Foundation. Archived from the original (PDF) on 2015-10-03. Retrieved 19 June 2017.
"Glucose transporter type 1 deficiency syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2018-02-01. Retrieved 2018-01-31.
"Professional Guide". GLUT1 deficiency Foundation. Archived from the original on 2018-02-01. Retrieved 2018-01-31.
"Metafora | Diagnostics tests". www.metafora-biosystems.com (in French). Archived from the original on 2018-02-01. Retrieved 2018-01-31.

worldcat.org

Pearson, Toni S.; Pons, Roser; Engelstad, Kristin; Kane, Steven A.; Goldberg, Michael E.; Vivo, Darryl C. De (2017-04-25). "Paroxysmal eye–head movements in GLUT1 deficiency syndrome". Neurology. 88 (17): 1666–1673. doi:10.1212/WNL.0000000000003867. ISSN 0028-3878. PMC 5405761. PMID 28341645.
Braakman, H.M.H.; Nicolai, J.; Willemsen, M.A.A.P. (2017-06-01). "Stroke-like episodes add to the phenotypic spectrum of GLUT1 deficiency syndrome". European Journal of Paediatric Neurology. 21: e176. doi:10.1016/j.ejpn.2017.04.995. ISSN 1090-3798.
Solis, Elysandra M.; Good, Levi B.; Vázquez, Rafael Granja; Patnaik, Sourav; Hernandez-Reynoso, Ana G.; Ma, Qian; Angulo, Gustavo; Dobariya, Aksharkumar; Cogan, Stuart F.; Pancrazio, Joseph J.; Pascual, Juan M.; Jakkamsetti, Vikram (2023). "Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations". Frontiers in Neuroscience. 17: 1191492. doi:10.3389/fnins.2023.1191492. ISSN 1662-4548. PMC 10565352. PMID 37829723.
Brockmann, Knut (2011-07-01). "Towards a more palatable treatment for GLUT1 deficiency syndrome". Developmental Medicine & Child Neurology. 53 (7): 580–581. doi:10.1111/j.1469-8749.2011.03946.x. ISSN 1469-8749. PMID 21585366.

youtube.com

GLUT1 deficiency Foundation (2018-01-30), Dr. Umrao Monani, archived from the original on 2021-12-21, retrieved 2018-01-31{{citation}}: CS1 maint: numeric names: authors list (link)