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Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

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作者: C,Paketci [1] ; P,Edem [2] ; S,Hiz [3] ; E,Sonmezler [4] ; D,Soydemir [2] ; G,Sarikaya Uzan [2] ; Y,Oktay [5] ; E,O'Heir [6] ; S,Beltran [7] ; S,Laurie [7] ; A,Töpf [8] ; H,Lochmuller [9] ; R,Horvath [10] ; U,Yis [2]
作者单位: Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. Electronic address: paketci@hotmail.com. [1] Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. [2] Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey. [3] Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey. [4] Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir, Turkey; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir, Turkey; Department of Medical Biology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. [5] Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, United States; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States. [6] CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain. [7] John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research, Newcastle University and Newcastle Hospitals, Newcastle upon Tyne, United Kingdom. [8] Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. [9] Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom. [10]
DOI 10.1016/j.braindev.2020.04.008
PMID 32389449
发布时间 2022-12-07
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