A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia

Glycogen storage disease (GSD) Ib is a rare genetic metabolic disorder caused by gene mutation in the glucose 6-phosphate transport gene SLC37A4 (OMIM# 602671). This study aimed to explore the association between a novel lipoprotein lipase (LPL) mutation and severe hypertriglyceridemia in a GSD Ib i...

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Main Authors: Fengyu Wang (Author), Fengli Wang (Author), Xiaojun Zhou (Author), Yingjie Yi (Author), Jie Zhao (Author)
Format: Book
Published: Frontiers Media S.A., 2021-08-01T00:00:00Z.
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