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Article

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia.

BMC medicine - 27 Jul 2023

Du Zhiyong, Li Fan, Jiang Long, Li Linyi, Du Yunhui, Yu Huahui, Luo Yan, Wang Yu, Sun Haili, Hu Chaowei, Li Jianping, Yang Ya, Jiao Xiaolu, Wang Luya, Qin Yanwen

Abstract excerpt

BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is an orphan metabolic disease characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C), xanthomas, aortic stenosis, and premature atherosclerotic cardiovascular disease (ASCVD). In addition to LDL-C, studies in experimental models and small clinical populations have suggested that other types of metabolic molecules might also be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37501168
DOI: 10.1186/s12916-023-02967-8
PMCID: PMC10375787

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