Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

Niemann-Pick Disease type C is a fatal autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations and characterized by progressive, disabling neurological deterioration and hepatosplenomegal...

Source: BMC Infectious Diseases - January 30, 2024 Category: Infectious Diseases Authors: Chaoxin Tao, Min Zhao, Xiaohui Zhang, Jihong Hao, Qiuyue Huo, Jie Sun, Jiangtao Xing, Yuna Zhang, Jianhong Zhao and Huaipeng Huang Tags: Case Report Source Type: research