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Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride
J Clin Lipidol 11: 1329

Rabacchi C, D'Addato S, Palmisano S, Lucchi T, Bertolini S, Calandra S, Tarugi P (2016)
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
J Clin Lipidol 10: 915

Rabacchi C, Pisciotta L, Cefalu AB, Noto D, Fresa R, Tarugi P, Averna M, Bertolini S, Calandra S (2015)
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
Atherosclerosis 241: 79

Conca P, Pileggi S, Simonelli S, Boer E, Boscutti G, Magnolo L, Tarugi P, Penco S, Franceschini G, Calabresi L, Gomaraschi M (2012)
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia
J Clin Lipidol 6: 244

Cefalu AB, Noto D, Arpi ML, Yin F, Spina R, Hilden H, Barbagallo CM, Carroccio A, Tarugi P, Squatrito S, Vigneri R, Taskinen MR, Peterfy M, Averna MR (2009)
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
J Clinical Endocrinology Metab 94: 4584

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)
Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders
Atherosclerosis 172: 309