Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
由HK1单等位基因变异引起的神经发育障碍的临床、神经影像学和代谢特征
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200146
Wortmann, Saskia B; Feichtinger, Rene G; Abela, Lucia; van Gemert, Loes A; Aubart, Mélodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stühn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Mühlhausen, Chris; Rio, Marlène; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B; Syrbe, Steffen; Zylicz, Stas A; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A; Wevers, Ron A; Boltshauser, Eugen; Willemsen, Michel A