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

• 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.
• Subjects: article
• Online Access: Connect to this object online.

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...