An atypical case of phosphoglycerate kinase deficiency with a novel PGK1 variant

被引：0
|
作者：
Zhou, Xizhong [1 ]
Liu, Qiuli [2 ]
Huang, Mingwei [2 ]
机构：
[1] Southern Med Univ, Zhujiang Hosp, Dept Pediat, Guangzhou, Peoples R China
[2] Aegicare Shenzhen Technol Co Ltd, Room 3803,Bldg 11A,Shenzhen Bay Sci Pk, Shenzhen, Guangdong, Peoples R China
来源：
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2024年 / 117卷
关键词：
Phosphoglycerate kinase deficiency; Extremely rare genetic disease; Novel PGK1 missense variant; Atypical disease presentations; Seizure; Mild hemolytic anemia;
D O I：
10.1016/j.seizure.2024.02.010
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：161 / 163
页数：3
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