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Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Mélodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; The Tich, Sylvie Nguyen; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent; Boespflug-Tanguy, Odile; De Vivo, Darryl C.
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  • Mochel F; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Gras D; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Luton MP; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Nizou M; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Giovannini D; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Delattre C; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Aubart M; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Barth M; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • De Saint-Martin A; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Doummar D; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Essid N; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Garros A; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Le Camus CH; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Hoebeke C; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • The Tich SN; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Perivier M; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Rivera S; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Rolland A; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Roubertie A; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Sarret C; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Sevin C; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Ville D; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Sitbon M; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Costa JM; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Pons R; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Garcia-Cazorla A; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Vuillaumier S; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Petit V; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • Boespflug-Tanguy O; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
  • De Vivo DC; From the Hôpital La Pitié-Salpêtrière (F.M., M-P.L., C.D.), Assistance-Publique Hôpitaux de Paris, Inserm U1127; Sorbonne University (D.Gras), Inserm U1127, CNRS UMR7225, Paris Brain Institute; U1141 Neurodiderot (D.Gras), équipe 5 InDev, Inserm, CEA, UP UNIACT, Neurospin, Joliot, DRF, CEA-Saclay; M
Neurology ; 100(23): e2360-e2373, 2023 06 06.
Article en En | MEDLINE | ID: mdl-37076312
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos Tipo de estudio: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Humans Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de los Carbohidratos Tipo de estudio: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Child / Humans Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article