Novel bi-allelic CAD variants cause epileptic encephalopathy responsive to triacetyluridine supplementation

被引：0
|
作者：
Anderson, Katherine [1 ,2 ]
Wiltrout, Kimberly [3 ]
Giummo, Christine [4 ]
Wortmann, Saskia B. [5 ]
Freeze, Hudson [6 ]
del Cano Ochoa, Francisco [7 ]
Ramon, Santiago [7 ]
机构：
[1] Univ Vermont, Dept Pediat, Burlington, VT 05405 USA
[2] Univ Utah, Dept Pediat, Salt Lake City, UT USA
[3] Harvard Med Ctr, Dept Neurol, Boston Childrens Hosp, Boston, MA USA
[4] Univ Vermont, Med Ctr, Dept Pediat, Burlington, VT USA
[5] Paracelsus Med Privatuniv, Univ Klin Kinder & Jugendheilkunde, Salzburg, Austria
[6] Sanford Burnham Prebys, Sanford Childrens Hlth Res Ctr, La Jolla, CA USA
[7] Inst Biomed Valencia, Unidad Estructura Dianas Macromol, Valencia, Spain
来源：
MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 04期
关键词：
D O I：
10.1016/j.ymgme.2024.108204
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Poster # 0
引用
收藏
页数：1
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