A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome-Reference-Cited by-同舟云学术

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

Published:2017-07 Issue:1 Volume:82 Page:133-138
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Gras Domitille¹,Cousin Christelle²,Kappeler Caroline³,Fung Cheuk-Wing⁴,Auvin Stéphane¹⁵,Essid Nouha⁶,Chung Brian Hy⁴,Da Costa Lydie⁷⁸,Hainque Elodie³⁹,Luton Marie-Pierre³,Petit Vincent²,Vuillaumier-Barrot Sandrine¹⁰,Boespflug-Tanguy Odile¹,Roze Emmanuel³⁹,Mochel Fanny³¹¹¹²

Affiliation:

1. APHP, Robert-Debré University Hospital, Department of Paediatric Neurology and Metabolic Diseases; Paris France

2. Metafora Biosystems; Evry France

3. Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM; Paris France

4. Queen Mary Hospital, Department of Pediatrics and Adolescent Medicine; Hong Kong

5. Inserm U 1141, Université Paris Diderot, Sorbonne Paris Cité, DHU Protect; Paris France

6. APHP, Raymond-Poincaré Hospital, Department of Neuropediatrics; Paris France

7. APHP, Robert-Debré University Hospital, Laboratory of Hematology; Paris France

8. Inserm U 1134; LABEX Gr-Ex; Université Paris Diderot; Paris France

9. APHP, Pitié-Salpêtrière University Hospital, Department of Neurology; Paris France

10. AP-HP, Bichat-Claude Bernard Hospital, Biochemistry and Genetic Laboratory; Paris France

11. APHP, Pitié-Salpêtrière University Hospital, Department of Genetics; Paris France

12. University Pierre and Marie Curie, Neurometabolic Research Group; Paris France

Funder

Joshua Hellmann Foundation for Orphan Disease

European Union's Horizon 2020 research and innovation program

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference14 articles.

1. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder;Leen;Brain,2010

2. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay;Vivo;N Engl J Med,1991

3. Glut1 deficiency syndrome and novel ketogenic diets;Klepper;J Child Neurol,2013

4. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency;Mochel;J Neurol Neurosurg Psychiatry,2016

5. Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein;Tang;Nat Commun,2017

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