ESPE Abstracts

ESPE Abstracts

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hrp0098p3-90 | Fat, Metabolism and Obesity | ESPE2024

Gene variants and clinical characteristics of children with sitosterolemia

Zou Chao-Chun , Gu Rui , Wang Hui , Wang Chun-Lin , Lu Mei , Miao Miao , Huang Mengna , Chen Yi , Dai Yangli , Zhu Mingqiang , Zhou Qiong

Objective: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.Methods: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phyt...
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ESPE Abstracts

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