Article
[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2016
Zhan X, Lin N, Zhang H W, Gao X L, Qiu W J, Han L S, Ye J, Gu X F
Abstract excerpt
OBJECTIVE: To investigate 7-ketocholesterol (7-KC) level in the blood, clinical features and gene mutation of Niemann-Pick disease type C (NPC). METHOD: Eighteen patients diagnosed as NPC in Shanghai Xinhua Hospital seen from February 2013 to October 2014 were enrolled in this study. They included 13 males and 5 females and aged from 5 months to 21 years. The plasma 7-KC concentrations, clinical features and gene...
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