Cargando…
Deletion of GPIHBP1 causing severe chylomicronemia
Lipoprotein lipase (LPL) is a hydrolase that cleaves circulating triglycerides to release fatty acids to the surrounding tissues. The enzyme is synthesized in parenchymal cells and is transported to its site of action on the capillary endothelium by glycophosphatidylinositol (GPI)-anchored high-dens...
Autores principales: | Rios, Jonathan J., Shastry, Savitha, Jasso, Juan, Hauser, Natalie, Garg, Abhimanyu, Bensadoun, André, Cohen, Jonathan C., Hobbs, Helen H. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319888/ https://www.ncbi.nlm.nih.gov/pubmed/22008945 http://dx.doi.org/10.1007/s10545-011-9406-5 |
Ejemplares similares
-
A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis
por: Jung, Mo Kyung, et al.
Publicado: (2017) -
Management of a pregnant patient with chylomicronemia from a novel mutation in GPIHBP1: a case report
por: Lin, Min-Huan, et al.
Publicado: (2020) -
Localization of lipoprotein lipase and GPIHBP1 in mouse pancreas: effects of diet and leptin deficiency
por: Nyrén, Rakel, et al.
Publicado: (2012) -
Functional validation of GPIHBP1 and identification of a functional mutation in GPIHBP1 for milk fat traits in dairy cattle
por: Yang, Jie, et al.
Publicado: (2017) -
A Comprehensive Update on the Chylomicronemia Syndrome
por: Goldberg, Ronald B., et al.
Publicado: (2020)