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 />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, 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 />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 />