Pisciotta L, Ossoli A, Ronca A, Garuti A, Fresa R, Favari E, Calabresi L, Calandra S, Bertolini S (2022) <br />Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipase<br /><i>J Clin Lipidol</i> <br /><br />Buonuomo PS, Rabacchi C, Macchiaiolo M, Trenti C, Fasano T, Tarugi P, Bartuli A, Bertolini S, Calandra S (2017) <br />Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride<br /><i>J Clin Lipidol</i> <b>11</b>: 1329<br /><br />Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L, Crock P, Vora K, Nightingale S, Michelakakis H, Garoufi A, Lykopoulou L, Bertolini S, Calandra S (2017) <br />Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants<br /><i>Atherosclerosis</i> <b>265</b>: 124<br /><br />Rabacchi C, D'Addato S, Palmisano S, Lucchi T, Bertolini S, Calandra S, Tarugi P (2016) <br />Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene<br /><i>J Clin Lipidol</i> <b>10</b>: 915<br /><br />Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S (2015) <br />A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene<br /><i>J Clin Lipidol</i> <b>9</b>: 265<br /><br />Rabacchi C, Pisciotta L, Cefalu AB, Noto D, Fresa R, Tarugi P, Averna M, Bertolini S, Calandra S (2015) <br />Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia<br /><i>Atherosclerosis</i> <b>241</b>: 79<br /><br />Pugni L, Riva E, Pietrasanta C, Rabacchi C, Bertolini S, Pederiva C, Mosca F, Calandra S (2014) <br />Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion<br /><i>JIMD Rep</i> <b>13</b>: 59<br /><br />Reiner Z, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, Jones S, Coric M, Calandra S, Hamilton J, Eagleton T, Ros E (2014) <br />Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction<br /><i>Atherosclerosis</i> <b>235</b>: 21<br /><br />Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, Pisciotta L, Bertolini S, Funke H, Seedorf U, Assmann G (2013) <br />Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations<br /><i>Nutr Metab Cardiovasc Dis</i> <b>23</b>: 732<br /><br />Stefanutti C, Gozzer M, Pisciotta L, D'Eufemia P, Bosco G, Morozzi C, Papadia F, Shafii M, Di Giacomo S, Bertolini S (2013) <br />A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment<br /><i>Atheroscler Suppl</i> <b>14</b>: 73<br /><br />Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S (2012) <br />Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease<br /><i>Mol Genet Metab</i> <b>105</b>: 450<br /><br />Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S (2009) <br />Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene<br /><i>Mol Genet Metab</i> <b>97</b>: 143<br /><br />Charlton-Menys V, Pisciotta L, Durrington PN, Neary R, Short CD, Calabresi L, Calandra S, Bertolini S (2007) <br />Molecular characterization of two patients with severe LCAT deficiency<br /><i>Nephrol Dial Transplant</i> <b>22</b>: 2379<br /><br />Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasca G, Gesualdo L, Gigante M, Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini G (2005) <br />The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families<br /><i>Arterioscler Thromb Vasc Biol</i> <b>25</b>: 1972<br /><br />Frasca GM, Soverini L, Tampieri E, Franceschini G, Calabresi L, Pisciotta L, Preda P, Vangelista A, Stefoni S, Bertolini S (2004) <br />A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene<br /><i>Nephrol Dial Transplant</i> <b>19</b>: 1622<br /><br />Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A, Fasano T, Alessandrini P, Bon GB, Siepi D, Mannarino E, Cattin L, Averna M, Cefalu AB, Cantafora A, Calandra S, Bertolini S (2004) <br />Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders<br /><i>Atherosclerosis</i> <b>172</b>: 309<br /><br />Sessa A, Battini G, Meroni M, Daidone G, Carnera I, Brambilla PL, Vigano G, Giordano F, Pallotti F, Torri Tarelli L, Calabresi L, Rolleri M, Bertolini S (2001) <br />Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations<br /><i>Nephron</i> <b>88</b>: 268<br /><br />Bertolini S, Simone ML, Pes GM, Ghisellini M, Rolleri M, Bellocchio A, Elicio N, Masturzo P, Calandra S (2000) <br />Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia))<br /><i>Clin Genet</i> <b>57</b>: 140<br /><br />