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The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

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Title: The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Authors: Sánchez-Lijarcio O; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain., Yubero D; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain., Leal F; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain., Couce ML; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Santiago de Compostela, Spain., González Gutiérrez-Solana L; Neuropediatrics Unit, Niño Jesús Clinical University Hospital, CIBERER, Madrid, Spain., López-Laso E; Paediatric Neurology Unit, Department of Paediatrics, University Hospital Reina Sofía, Maimónides Institute of Biomedical Investigation of Cordoba (IMIBIC) and CIBERER, Córdoba, Spain., García-Cazorla À; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain., Pías-Peleteiro L; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain., de Azua Brea B; Pediatric Department, Son Llàtzer Hospital, Mallorca, Spain., Ibáñez-Micó S; Neuropaediatrics Unit, Department of Pediatrics, Virgen de la Arrixaca University Hospital, Murcia, Spain., Mateo-Martínez G; Neuropediatrics Unit, Guadalajara Clinical University Hospital, Guadalajara, Spain., Troncoso-Schifferli M; Child Neurology Service, Clinical Hospital San Borja Arriarán, University of Chile, Santiago, Chile., Witting-Enriquez S; Child Neurology Service, Clinical Hospital San Borja Arriarán, University of Chile, Santiago, Chile., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain., Artuch R; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain.
Source: Clinical genetics [Clin Genet] 2022 Jul; Vol. 102 (1), pp. 40-55. Date of Electronic Publication: 2022 Apr 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
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  Data: <searchLink fieldCode="AU" term="%22Sánchez-Lijarcio+O%22">Sánchez-Lijarcio O</searchLink>; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Yubero+D%22">Yubero D</searchLink>; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Leal+F%22">Leal F</searchLink>; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Couce+ML%22">Couce ML</searchLink>; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22González+Gutiérrez-Solana+L%22">González Gutiérrez-Solana L</searchLink>; Neuropediatrics Unit, Niño Jesús Clinical University Hospital, CIBERER, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22López-Laso+E%22">López-Laso E</searchLink>; Paediatric Neurology Unit, Department of Paediatrics, University Hospital Reina Sofía, Maimónides Institute of Biomedical Investigation of Cordoba (IMIBIC) and CIBERER, Córdoba, Spain.<br /><searchLink fieldCode="AU" term="%22García-Cazorla+À%22">García-Cazorla À</searchLink>; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Pías-Peleteiro+L%22">Pías-Peleteiro L</searchLink>; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22de+Azua+Brea+B%22">de Azua Brea B</searchLink>; Pediatric Department, Son Llàtzer Hospital, Mallorca, Spain.<br /><searchLink fieldCode="AU" term="%22Ibáñez-Micó+S%22">Ibáñez-Micó S</searchLink>; Neuropaediatrics Unit, Department of Pediatrics, Virgen de la Arrixaca University Hospital, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Mateo-Martínez+G%22">Mateo-Martínez G</searchLink>; Neuropediatrics Unit, Guadalajara Clinical University Hospital, Guadalajara, Spain.<br /><searchLink fieldCode="AU" term="%22Troncoso-Schifferli+M%22">Troncoso-Schifferli M</searchLink>; Child Neurology Service, Clinical Hospital San Borja Arriarán, University of Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Witting-Enriquez+S%22">Witting-Enriquez S</searchLink>; Child Neurology Service, Clinical Hospital San Borja Arriarán, University of Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Ugarte+M%22">Ugarte M</searchLink>; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Artuch+R%22">Artuch R</searchLink>; Sant Joan de Déu Research Institute, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Pérez+B%22">Pérez B</searchLink>; Centro de Diagnóstico de Enfermedades Moleculares, Center of Molecular Biology Severo Ochoa (CBMSO), Autonomous University of Madrid, CIBERER, IdiPAZ, Madrid, Spain.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2022 Jul; Vol. 102 (1), pp. 40-55. <i>Date of Electronic Publication: </i>2022 Apr 15.
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