Article
Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.
Lipids in health and disease - 6 May 2016
Zhang Yonghong, Zhou Jing, Zheng Wenxin, Lan Zhangzhang, Huang Zhiwei, Yang Qingnan, Liu Chengbo, Gao Rui, Zhang Yongjun
Abstract excerpt
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease due mainly to inherited deficiencies in the proteins or enzymes involved in the clearance of triglycerides from circulation. It usually happens in late childhood and adolescence, which can have serious consequences if misdiagnosed or untreated. In the present study, we investigated two Chinese male babies (A and B), 30d and 48d in age,...
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