| Title : Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society - Ariza_2025_Genet.Med__101365 |
| Author(s) : Ariza M , Coca-Prieto I , Rioja J , Muniz-Grijalvo O , Zambon-Rados D , Blanco-Echavarria A , Arrobas-Velilla T , Delgado-Lista J , Leon-Jimenez D , Casanas-Martinez M , Alvarez-Sala-Walther LA , Gutierrez-Carrasquilla L , Sanchez-Gil J , Domenech M , Gonzalez-Jimenez A , Benitez-Toledo MJ , Espildora-Hernandez J , Ortega-Martinez de Victoria E , Sanchez-Chaparro M , Valdivielso P |
| Ref : Genet Med , :101365 , 2025 |
| Abstract : |
| PubMedSearch : Ariza_2025_Genet.Med__101365 |
| PubMedID: 39873189 |
| Title : Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society - Ariza_2025_Genet.Med__101365 |
| Author(s) : Ariza M , Coca-Prieto I , Rioja J , Muniz-Grijalvo O , Zambon-Rados D , Blanco-Echavarria A , Arrobas-Velilla T , Delgado-Lista J , Leon-Jimenez D , Casanas-Martinez M , Alvarez-Sala-Walther LA , Gutierrez-Carrasquilla L , Sanchez-Gil J , Domenech M , Gonzalez-Jimenez A , Benitez-Toledo MJ , Espildora-Hernandez J , Ortega-Martinez de Victoria E , Sanchez-Chaparro M , Valdivielso P |
| Ref : Genet Med , :101365 , 2025 |
| Abstract : |
| PubMedSearch : Ariza_2025_Genet.Med__101365 |
| PubMedID: 39873189 |
| Title : Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation - Coca-Prieto_2011_J.Intern.Med_270_224 |
| Author(s) : Coca-Prieto I , Kroupa O , Gonzalez-Santos P , Magne J , Olivecrona G , Ehrenborg E , Valdivielso P |
| Ref : J Intern Med , 270 :224 , 2011 |
| Abstract : |
| PubMedSearch : Coca-Prieto_2011_J.Intern.Med_270_224 |
| PubMedID: 21314738 |
| Title : Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation - Coca-Prieto_2011_J.Intern.Med_270_224 |
| Author(s) : Coca-Prieto I , Kroupa O , Gonzalez-Santos P , Magne J , Olivecrona G , Ehrenborg E , Valdivielso P |
| Ref : J Intern Med , 270 :224 , 2011 |
| Abstract : |
| PubMedSearch : Coca-Prieto_2011_J.Intern.Med_270_224 |
| PubMedID: 21314738 |