Clinical Variability of GLUT1DS

Investigators from Pavia, Rho, Brescia and Milan, Italy, studied 22 patients diagnosed with GLUT1 deficiency syndrome (GLUT1DS) to document clinical or genetic differences between patients with familial <em>SLC2A1</em> gene mutations (n=11) and those with sporadic mutations (n=11).

书目详细资料
Main Authors: Anastasia Martinez-Esteve Melnikova, Christian M Korff
格式: 文件
语言:English
出版: Pediatric Neurology Briefs Publishers 2015-02-01
丛编:Pediatric Neurology Briefs
主题:
在线阅读:https://www.pediatricneurologybriefs.com/articles/39