Buonuomo PS, Rabacchi C, Macchiaiolo M, Trenti C, Fasano T, Tarugi P, Bartuli A, Bertolini S, Calandra S (2017)
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

Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S (2015)
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene
J Clin Lipidol 9: 265

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

Pugni L, Riva E, Pietrasanta C, Rabacchi C, Bertolini S, Pederiva C, Mosca F, Calandra S (2014)
Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion
JIMD Rep 13: 59

Fasano T, Pisciotta L, Bocchi L, Guardamagna O, Assandro P, Rabacchi C, Zanoni P, Filocamo M, Bertolini S, Calandra S (2012)
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease
Mol Genet Metab 105: 450