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| Title : Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride - Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| Author(s) : Buonuomo PS , Rabacchi C , Macchiaiolo M , Trenti C , Fasano T , Tarugi P , Bartuli A , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 11 :1329 , 2017 |
| Abstract : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| ESTHER : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedSearch : Buonuomo_2017_J.Clin.Lipidol_11_1329 |
| PubMedID: 28951076 |
| Gene_locus related to this paper: human-LIPC , human-LPL |
| Title : Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene - Rabacchi_2016_J.Clin.Lipidol_10_915 |
| Author(s) : Rabacchi C , D'Addato S , Palmisano S , Lucchi T , Bertolini S , Calandra S , Tarugi P |
| Ref : J Clin Lipidol , 10 :915 , 2016 |
| Abstract : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| ESTHER : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| PubMedSearch : Rabacchi_2016_J.Clin.Lipidol_10_915 |
| PubMedID: 27578123 |
| Title : A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene - Buonuomo_2015_J.Clin.Lipidol_9_265 |
| Author(s) : Buonuomo PS , Bartuli A , Rabacchi C , Bertolini S , Calandra S |
| Ref : J Clin Lipidol , 9 :265 , 2015 |
| Abstract : Buonuomo_2015_J.Clin.Lipidol_9_265 |
| ESTHER : Buonuomo_2015_J.Clin.Lipidol_9_265 |
| PubMedSearch : Buonuomo_2015_J.Clin.Lipidol_9_265 |
| PubMedID: 25911085 |
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : Rabacchi_2015_Atherosclerosis_241_79 |
| ESTHER : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| Gene_locus related to this paper: human-LPL |
| Title : Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion - Pugni_2014_JIMD.Rep_13_59 |
| Author(s) : Pugni L , Riva E , Pietrasanta C , Rabacchi C , Bertolini S , Pederiva C , Mosca F , Calandra S |
| Ref : JIMD Rep , 13 :59 , 2014 |
| Abstract : Pugni_2014_JIMD.Rep_13_59 |
| ESTHER : Pugni_2014_JIMD.Rep_13_59 |
| PubMedSearch : Pugni_2014_JIMD.Rep_13_59 |
| PubMedID: 24142281 |
| Title : Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease - Fasano_2012_Mol.Genet.Metab_105_450 |
| Author(s) : Fasano T , Pisciotta L , Bocchi L , Guardamagna O , Assandro P , Rabacchi C , Zanoni P , Filocamo M , Bertolini S , Calandra S |
| Ref : Mol Genet Metab , 105 :450 , 2012 |
| Abstract : Fasano_2012_Mol.Genet.Metab_105_450 |
| ESTHER : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedSearch : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedID: 22227072 |
| Gene_locus related to this paper: human-LIPA |