Lysosomal acid lipase deficiency–an under-recognized cause of dyslipidaemia and liver dysfunction Ž Reiner, O Guardamagna, D Nair, H Soran, K Hovingh, S Bertolini, ... Atherosclerosis 235 (1), 21-30, 2014 | 365 | 2014 |
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) AJ Vallejo-Vaz, CAT Stevens, ARM Lyons, KI Dharmayat, T Freiberger, ... The Lancet 398 (10312), 1713-1725, 2021 | 191 | 2021 |
A Novel Loss of Function Mutation of PCSK9 Gene in White Subjects With Low-Plasma Low-Density Lipoprotein Cholesterol T Fasano, AB Cefalu, E Di Leo, D Noto, D Pollaccia, L Bocchi, V Valenti, ... Arteriosclerosis, thrombosis, and vascular biology 27 (3), 677-681, 2007 | 166 | 2007 |
Clinical features of lysosomal acid lipase deficiency BK Burton, PB Deegan, GM Enns, O Guardamagna, S Horslen, ... Journal of pediatric gastroenterology and nutrition 61 (6), 619-625, 2015 | 144 | 2015 |
Toward an international consensus—Integrating lipoprotein apheresis and new lipid-lowering drugs C Stefanutti, U Julius, GF Watts, M Harada-Shiba, M Cossu, VJ Schettler, ... Journal of clinical lipidology 11 (4), 858-871. e3, 2017 | 131 | 2017 |
Paediatric screening for hypercholesterolaemia in Europe DM Kusters, C De Beaufort, K Widhalm, O Guardamagna, N Bratina, ... Archives of disease in childhood 97 (3), 272-276, 2012 | 130 | 2012 |
Atherogenic dyslipidemia and cardiovascular risk factors in obese children E D’Adamo, O Guardamagna, F Chiarelli, A Bartuli, D Liccardo, F Ferrari, ... International journal of endocrinology 2015 (1), 912047, 2015 | 111 | 2015 |
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants SA Jones, V Valayannopoulos, E Schneider, S Eckert, M Banikazemi, ... Genetics in Medicine 18 (5), 452-458, 2016 | 110 | 2016 |
Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease T Fasano, L Pisciotta, L Bocchi, O Guardamagna, P Assandro, ... Molecular genetics and metabolism 105 (3), 450-456, 2012 | 96 | 2012 |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia O Guardamagna, G Restagno, E Rolfo, C Pederiva, S Martini, F Abello, ... The Journal of pediatrics 155 (2), 199-204. e2, 2009 | 94 | 2009 |
The treatment of hypercholesterolemic children: efficacy and safety of a combination of red yeast rice extract and policosanols O Guardamagna, F Abello, V Baracco, B Stasiowska, F Martino Nutrition, Metabolism and Cardiovascular Diseases 21 (6), 424-429, 2011 | 93 | 2011 |
Bifidobacteria supplementation: effects on plasma lipid profiles in dyslipidemic children O Guardamagna, A Amaretti, PE Puddu, S Raimondi, F Abello, P Cagliero, ... Nutrition 30 (7-8), 831-836, 2014 | 84 | 2014 |
Spectrum of mutations in Italian patients with familial hypercholesterolemia: new results from the LIPIGEN study A Pirillo, K Garlaschelli, M Arca, M Averna, S Bertolini, S Calandra, ... Atherosclerosis Supplements 29, 17-24, 2017 | 78 | 2017 |
Endothelial activation, inflammation and premature atherosclerosis in children with familial dyslipidemia O Guardamagna, F Abello, P Saracco, V Baracco, E Rolfo, M Pirro Atherosclerosis 207 (2), 471-475, 2009 | 77 | 2009 |
Familial hypercholesterolemia: the Italian atherosclerosis society network (LIPIGEN) M Averna, AB Cefalu, M Casula, D Noto, M Arca, S Bertolini, S Calandra, ... Atherosclerosis Supplements 29, 11-16, 2017 | 75 | 2017 |
Primary hyperlipidemias in children: effect of plant sterol supplementation on plasma lipids and markers of cholesterol synthesis and absorption O Guardamagna, F Abello, V Baracco, G Federici, P Bertucci, A Mozzi, ... Acta diabetologica 48, 127-133, 2011 | 74 | 2011 |
Impact of nutrition since early life on cardiovascular prevention O Guardamagna, F Abello, P Cagliero, L Lughetti Italian journal of pediatrics 38, 1-10, 2012 | 62 | 2012 |
A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410–> Val) leads to enzyme inactivation and familial chylomicronemia. L Previato, O Guardamagna, KA Dugi, R Ronan, GD Talley, ... Journal of lipid research 35 (9), 1552-1560, 1994 | 58 | 1994 |
Prenatal diagnosis of “dihydrobiopterin synthetase” deficiency, a variant form of phenylketonuria A Niederwieser, H Shintaku, T Hasler, HC Curtius, H Lehmann, ... European journal of pediatrics 145, 176-178, 1986 | 54 | 1986 |
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study M Casula, E Olmastroni, A Pirillo, AL Catapano, M Arca, M Averna, ... Atherosclerosis 277, 413-418, 2018 | 51 | 2018 |