Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition [0.03%]
外显子组测序成功指导异烟酸治疗一例进展迅速的神经系统疾病病例
Slavé Petrovski,Vandana Shashi,Steven Petrou et al.
Slavé Petrovski et al.
Genetically targeted therapies for rare Mendelian conditions are improving patient outcomes. Here, we present the case of a 20-mo-old female suffering from a rapidly progressing neurological disorder. Although diagnosed initially with a pos...