| 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 : Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease - de Las Heras_2024_Nutrients_16_4309 |
| Author(s) : de Las Heras J , Almohalla C , Blasco-Alonso J , Bourbon M , Couce ML , de Castro Lopez MJ , Garcia Jimenez MC , Gil Ortega D , Gonzalez-Dieguez L , Meavilla S , Moreno-Alvarez A , Pastor-Rosado J , Sanchez-Pintos P , Serrano-Gonzalo I , Lopez E , Valdivielso P , Yahyaoui R , Quintero J |
| Ref : Nutrients , 16 :4309 , 2024 |
| Abstract : |
| PubMedSearch : de Las Heras_2024_Nutrients_16_4309 |
| PubMedID: 39770929 |
| Title : Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease - de Las Heras_2024_Nutrients_16_4309 |
| Author(s) : de Las Heras J , Almohalla C , Blasco-Alonso J , Bourbon M , Couce ML , de Castro Lopez MJ , Garcia Jimenez MC , Gil Ortega D , Gonzalez-Dieguez L , Meavilla S , Moreno-Alvarez A , Pastor-Rosado J , Sanchez-Pintos P , Serrano-Gonzalo I , Lopez E , Valdivielso P , Yahyaoui R , Quintero J |
| Ref : Nutrients , 16 :4309 , 2024 |
| Abstract : |
| PubMedSearch : de Las Heras_2024_Nutrients_16_4309 |
| PubMedID: 39770929 |
| Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163 |
| Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P |
| Ref : Clinica Chimica Acta , 500 :163 , 2020 |
| Abstract : |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163 |
| Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P |
| Ref : Clinica Chimica Acta , 500 :163 , 2020 |
| Abstract : |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| Gene_locus related to this paper: human-LPL |
| 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 |
| Title : Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study - Ariza_2010_BMC.Med.Genet_11_66 |
| Author(s) : Ariza MJ , Sanchez-Chaparro MA , Baron FJ , Hornos AM , Calvo-Bonacho E , Rioja J , Valdivielso P , Gelpi JA , Gonzalez-Santos P |
| Ref : BMC Med Genet , 11 :66 , 2010 |
| Abstract : |
| PubMedSearch : Ariza_2010_BMC.Med.Genet_11_66 |
| PubMedID: 20429872 |
| Title : Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study - Ariza_2010_BMC.Med.Genet_11_66 |
| Author(s) : Ariza MJ , Sanchez-Chaparro MA , Baron FJ , Hornos AM , Calvo-Bonacho E , Rioja J , Valdivielso P , Gelpi JA , Gonzalez-Santos P |
| Ref : BMC Med Genet , 11 :66 , 2010 |
| Abstract : |
| PubMedSearch : Ariza_2010_BMC.Med.Genet_11_66 |
| PubMedID: 20429872 |
| Title : Association of the -250G\/A promoter polymorphism of the hepatic lipase gene with the risk of peripheral arterial disease in type 2 diabetic patients - Valdivielso_2008_J.Diabetes.Complications_22_273 |
| Author(s) : Valdivielso P , Ariza MJ , de la Vega-Roman C , Gonzalez-Alegre T , Rioja J , Ulzurrun E , Gonzalez-Santos P |
| Ref : J Diabetes Complications , 22 :273 , 2008 |
| Abstract : |
| PubMedSearch : Valdivielso_2008_J.Diabetes.Complications_22_273 |
| PubMedID: 18413186 |
| Gene_locus related to this paper: human-LIPC |
| Title : Association of the -250G\/A promoter polymorphism of the hepatic lipase gene with the risk of peripheral arterial disease in type 2 diabetic patients - Valdivielso_2008_J.Diabetes.Complications_22_273 |
| Author(s) : Valdivielso P , Ariza MJ , de la Vega-Roman C , Gonzalez-Alegre T , Rioja J , Ulzurrun E , Gonzalez-Santos P |
| Ref : J Diabetes Complications , 22 :273 , 2008 |
| Abstract : |
| PubMedSearch : Valdivielso_2008_J.Diabetes.Complications_22_273 |
| PubMedID: 18413186 |
| Gene_locus related to this paper: human-LIPC |