A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation.

Author: Zhen Jun XIAO ¹ ; Sheng Xuan LIU ¹ ; Biao ZOU ¹ ; Heng Hui CHENG ² ; Hui XU ³ ; Zhi Hua HUANG ¹ ; Sai Nan SHU ¹
Author Information

1. Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
2. Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
3. Ultrastructural Pathology Laboratory, Department of Pathology, School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Publication Type:Journal Article
MeSH: Cholesterol Ester Storage Disease/genetics*; Humans; Mutation; Sterol Esterase/genetics*
From: Chinese Journal of Pediatrics 2022;60(4):360-362
CountryChina
Language:Chinese