Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

Mochel, F., Gras, D., Luton, M.-P., Nizou, M., Giovannini, D., Delattre, C., Aubart, M., Barth, M., De Saint-Martin, A., Doummar, D., Essid, N., Garros, A., Le Camus, C. H., Hoebeke, C., The Tich, S. N., Perivier, M., Rivera, S., Rolland, A., Roubertie, A., … Moriceau, S. (2023). Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome. Neurology, 100(23). https://doi.org/10.1212/wnl.0000000000207296
Authors:
Fanny Mochel
Domitille Gras
Marie-Pierre Luton
Manon Nizou
Donatella Giovannini
Caroline Delattre
Mélodie Aubart
Magalie Barth
Anne De Saint-Martin
Diane Doummar
Nouha Essid
Alexa Garros
Caroline Hachon Le Camus
Celia Hoebeke
Sylvie Nguyen The Tich
Maximilien Perivier
Serge Rivera
Anne Rolland
Agathe Roubertie
Catherine Sarret
Caroline Sevin
Dorothee Ville
Marc Sitbon
Jean-Marc Costa
Roser Pons
Angels Garcia-Cazorla
Sandrine Vuillaumier
Vincent Petit
Odile Boespflug-Tanguy
Darryl C De Vivo
Affiliated Authors:
Fanny Mochel
Domitille Gras
Marie-Pierre Luton
Manon Nizou
Donatella Giovannini
Caroline Delattre
Mélodie Aubart
Magalie Barth
Anne De Saint-Martin
Diane Doummar
Nouha Essid
Alexa Garros
Caroline Hachon Le Camus
Celia Hoebeke
Sylvie Nguyen The Tich
Maximilien Perivier
Serge Rivera
Anne Rolland
Agathe Roubertie
Catherine Sarret
Caroline Sevin
Dorothee Ville
Marc Sitbon
Jean-Marc Costa
Roser Pons
Angels Garcia-Cazorla
Sandrine Vuillaumier
Vincent Petit
Odile Boespflug-Tanguy
Darryl C De Vivo
Columbia Affiliation:
Subjects:
Carbohydrate Metabolism, Inborn Errors (MeSH)
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Publication Type:
Article
Unique ID:
10.1212/wnl.0000000000207296
PMID:
37076312
DOI:
10.1212/wnl.0000000000207296
Journal:
Neurology
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record

Record Created: