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

Annals of Neurology

Volumn 82, Issue 1, 2017, Pages 133-138

  Gras, Domitille ^a   Cousin, Christelle ^b   Kappeler, Caroline ^c   Fung, Cheuk Wing ^d   Auvin, Stéphane ^a,e   Essid, Nouha ^f   Chung, Brian Hy ^d   Da Costa, Lydie ^a,g   Hainque, Elodie ^c,h   Luton, Marie Pierre ^c   Petit, Vincent ^b   Vuillaumier Barrot, Sandrine ⁱ   Boespflug Tanguy, Odile ^a   Roze, Emmanuel ^c,h   Mochel, Fanny ^c,h  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b Metafora Biosystems   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d QUEEN MARY HOSPITAL   (Hong Kong)

^e INSERM   (France)

^f RAYMOND POINCARÉ HOSPITAL   (France)

^g hôpital Robert Debré et Institut national de la transfusion sanguine   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ BICHAT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; GLUCOSE TRANSPORTER 1; LACTIC ACID; GLUCOSE TRANSPORTER; SLC2A1 PROTEIN, HUMAN;

ADCY5 GENE; ADOLESCENT; ADULT; ARTICLE; ATP1A3 GENE; BLOOD ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; EPILEPSY; ERYTHROCYTE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME; HUMAN; HUMAN CELL; MALE; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PRRT2 GENE; YOUNG ADULT; BIOSYNTHESIS; BLOOD; BLOOD EXAMINATION; CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE CONTROL STUDY; DEFICIENCY; MIDDLE AGED; MOVEMENT DISORDERS;

ADOLESCENT; ADULT; CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GLUCOSE TRANSPORTER TYPE 1; HEMATOLOGIC TESTS; HUMANS; MALE; MIDDLE AGED; MONOSACCHARIDE TRANSPORT PROTEINS; MOVEMENT DISORDERS; YOUNG ADULT;

EID: 85025595025     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24970     Document Type: Article

References (14)

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