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Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis

INTRODUCTION: Lipoprotein lipase (LPL) is an important enzyme in lipid metabolism, individuals with LPL gene variants could present type I hyperlipoproteinemia, lipemia retinalis, hepatosplenomegaly, and pancreatitis. To date, there are no reports of renal lipidosis induced by type I hyperlipoprotei...

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Detalles Bibliográficos
Autores principales:	Wu, Hongyan, Xu, Huan, Lei, Song, Yang, Zhi, Yang, Shan, Du, Jingxue, Zhou, Yi, Liu, Yunqiang, Yang, Yuan, Hu, Zhangxue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Translational Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658268/ https://www.ncbi.nlm.nih.gov/pubmed/38025240 http://dx.doi.org/10.1016/j.ekir.2023.08.027

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