Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG
Cem Paketçi(Dokuz Eylül University), Uluç Yiş(Dokuz Eylül University), Gamze Sarıkaya Uzan(Dokuz Eylül University), Didem Soydemir(Dokuz Eylül University), Rita Horváth(University of Cambridge), Yavuz Oktay(Dokuz Eylül University), Hanns Lochmüller(University of Ottawa), Sergi Beltrán(Centro Nacional de Análisis Genómico), Ana Töpf(NIHR Newcastle Biomedical Research Centre), Ece Sönmezler(Dokuz Eylül University), Emily O’Heir(MACOM (United States)), Pınar Edem(Dokuz Eylül University), Steven Laurie(Centre for Genomic Regulation), Semra Hız(Dokuz Eylül University)
Cited by 16
Related Papers
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
|Science Translational Medicine|2017|809
Mutations in dynamin 2 cause dominant centronuclear myopathy
|Nature Genetics|2005|462
Radiation Dose and Second Cancer Risk in Patients Treated for Cancer of the Cervix
|Radiation Research|1988|397
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
|The American Journal of Human Genetics|2012|338