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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Detalles Bibliográficos
Autores principales: Wang, Fengyu, Wang, Fengli, Zhou, Xiaojun, Yi, Yingjie, Zhao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416156/
https://www.ncbi.nlm.nih.gov/pubmed/34485189
http://dx.doi.org/10.3389/fped.2021.671536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416156/
https://www.ncbi.nlm.nih.gov/pubmed/34485189
http://dx.doi.org/10.3389/fped.2021.671536

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