Article
Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers.
Frontiers in endocrinology - 1 Jan 2024
Chen Xi, Wang Ziyuan, Fu Wenzhen, Wei Zhe, Gu Jiemei, Wang Chun, Zhang Zhenlin, Yu Xiangtian, Hu Weiwei
Abstract excerpt
Objective: CLCN7 mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, CLCN7 mutations can lead to severe or relatively benign forms of osteopetrosis. However, the serum metabolic alterations in osteopetrosis caused by CLCN7 mutation are still unknown. We aimed to investigate the differences in the metabolome of osteopetrosis patients caused by CLCN7 mutation versus...
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