A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease
大海捞针?靶向癫痫基因检测在识别一种可治疗但进展迅速的代谢性癫痫(CLN2 病)中的作用
期刊:Arquivos De Neuro-Psiquiatria
影响因子:1.6
doi:10.1055/s-0044-1786854
Lourenço, Charles Marques; Sallum, Juliana Maria Ferraz; Pereira, Alessandra Marques; Girotto, Paula Natale; Kok, Fernando; Vilela, Daniel Reda Fenga; Barron, Erika; Pessoa, André; Oliveira, Bibiana Mello de