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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome.
Gras, Domitille; Cousin, Christelle; Kappeler, Caroline; Fung, Cheuk-Wing; Auvin, Stéphane; Essid, Nouha; Chung, Brian Hy; Da Costa, Lydie; Hainque, Elodie; Luton, Marie-Pierre; Petit, Vincent; Vuillaumier-Barrot, Sandrine; Boespflug-Tanguy, Odile; Roze, Emmanuel; Mochel, Fanny.
Afiliación
  • Gras D; APHP, Robert-Debré University Hospital, Department of Paediatric Neurology and Metabolic Diseases, Paris, France.
  • Cousin C; Metafora Biosystems, Evry, France.
  • Kappeler C; 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.
  • Fung CW; Queen Mary Hospital, Department of Pediatrics and Adolescent Medicine, Hong Kong.
  • Auvin S; APHP, Robert-Debré University Hospital, Department of Paediatric Neurology and Metabolic Diseases, Paris, France.
  • Essid N; Inserm U 1141, Université Paris Diderot, Sorbonne Paris Cité, DHU Protect, Paris, France.
  • Chung BH; APHP, Raymond-Poincaré Hospital, Department of Neuropediatrics, Paris, France.
  • Da Costa L; Queen Mary Hospital, Department of Pediatrics and Adolescent Medicine, Hong Kong.
  • Hainque E; APHP, Robert-Debré University Hospital, Laboratory of Hematology, Paris, France.
  • Luton MP; Inserm U 1134; LABEX Gr-Ex; Université Paris Diderot, Paris, France.
  • Petit V; 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.
  • Vuillaumier-Barrot S; APHP, Pitié-Salpêtrière University Hospital, Department of Neurology, Paris, France.
  • Boespflug-Tanguy O; 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.
  • Roze E; Metafora Biosystems, Evry, France.
  • Mochel F; AP-HP, Bichat-Claude Bernard Hospital, Biochemistry and Genetic Laboratory, Paris, France.
Ann Neurol ; 82(1): 133-138, 2017 Jul.
Article en En | MEDLINE | ID: mdl-28556183
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de Transporte de Monosacáridos / Errores Innatos del Metabolismo de los Carbohidratos / Transportador de Glucosa de Tipo 1 / Pruebas Hematológicas Tipo de estudio: Diagnostic_studies / Observational_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article País de afiliación: Francia
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas de Transporte de Monosacáridos / Errores Innatos del Metabolismo de los Carbohidratos / Transportador de Glucosa de Tipo 1 / Pruebas Hematológicas Tipo de estudio: Diagnostic_studies / Observational_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Año: 2017 Tipo del documento: Article País de afiliación: Francia