Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases.

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作者： Sara,Olivotto ^[1] ; Alessandra,Duse ^[2] ; Stefania Maria,Bova ^[1] ; Valeria,Leonardi ^[3] ; Elia,Biganzoli ^[4] ; Alberto,Milanese ^[4] ; Cristina,Cereda ^[5] ; Simona,Bertoli ^[6] ; Roberto,Previtali ^[7] ; Pierangelo,Veggiotti ^[2]

作者单位： Pediatric Neurology Unit, Vittore Buzzi Children's Hospital, Via Castelvetro, 32, 20154, Milan, Italy. ^[1] University of Milan, Via Festa del Perdono 7, 20122, Milan, Italy. ^[2] Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Via Giovanni Battista Grassi, 74, 20157, Milan, Italy. ^[3] Medical Statistics Unit, Department of Biomedical and Clinical Sciences L. Sacco, "Luigi Sacco" University Hospital, Università degli Studi di Milano, Milan, Italy. ^[4] Laboratory of Medical Genetic, "Vittore Buzzi" Children's Hospital, Via Castelvetro, 32, 20154, Milan, Italy. ^[5] Obesity Unit-Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145, Milan, Italy. ^[6] International Center for the Assessment of Nutritional Status (ICANS), Department of Food, Environmental and Nutritional Sciences (DeFENS), University of Milan, 20133, Milan, Italy. ^[7] Pediatric Neurology Unit, Vittore Buzzi Children's Hospital, Via Castelvetro, 32, 20154, Milan, Italy. pierangelo.veggiotti@unimi.it. ^[8] Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Via Giovanni Battista Grassi, 74, 20157, Milan, Italy. pierangelo.veggiotti@unimi.it. ^[9]

关键词 Familial GLUT1-DS Glut1 deficiency syndrome IQ Life achievement Quality of life