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| Title : Cholesterol trafficking-related serum lipoprotein functions in children with cholesteryl ester storage disease - Zimetti_2015_Atherosclerosis_242_443 |
| Author(s) : Zimetti F , Favari E , Cagliero P , Adorni MP , Ronda N , Bonardi R , Gomaraschi M , Calabresi L , Bernini F , Guardamagna O |
| Ref : Atherosclerosis , 242 :443 , 2015 |
| Abstract : Zimetti_2015_Atherosclerosis_242_443 |
| ESTHER : Zimetti_2015_Atherosclerosis_242_443 |
| PubMedSearch : Zimetti_2015_Atherosclerosis_242_443 |
| PubMedID: 26291497 |
| Title : Clinical Features of Lysosomal Acid Lipase Deficiency - Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| Author(s) : Burton BK , Deegan PB , Enns GM , Guardamagna O , Horslen S , Hovingh GK , Lobritto SJ , Malinova V , McLin VA , Raiman J , Di Rocco M , Santra S , Sharma R , Sykut-Cegielska J , Whitley CB , Eckert S , Valayannopoulos V , Quinn AG |
| Ref : J Pediatr Gastroenterol Nutr , 61 :619 , 2015 |
| Abstract : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| ESTHER : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| PubMedSearch : Burton_2015_J.Pediatr.Gastroenterol.Nutr_61_619 |
| PubMedID: 26252914 |
| Title : Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction - Reiner_2014_Atherosclerosis_235_21 |
| Author(s) : Reiner Z , Guardamagna O , Nair D , Soran H , Hovingh K , Bertolini S , Jones S , Coric M , Calandra S , Hamilton J , Eagleton T , Ros E |
| Ref : Atherosclerosis , 235 :21 , 2014 |
| Abstract : Reiner_2014_Atherosclerosis_235_21 |
| ESTHER : Reiner_2014_Atherosclerosis_235_21 |
| PubMedSearch : Reiner_2014_Atherosclerosis_235_21 |
| PubMedID: 24792990 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease - Fasano_2012_Mol.Genet.Metab_105_450 |
| Author(s) : Fasano T , Pisciotta L , Bocchi L , Guardamagna O , Assandro P , Rabacchi C , Zanoni P , Filocamo M , Bertolini S , Calandra S |
| Ref : Mol Genet Metab , 105 :450 , 2012 |
| Abstract : Fasano_2012_Mol.Genet.Metab_105_450 |
| ESTHER : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedSearch : Fasano_2012_Mol.Genet.Metab_105_450 |
| PubMedID: 22227072 |
| Gene_locus related to this paper: human-LIPA |
| Title : A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia - Previato_1994_J.Lipid.Res_35_1552 |
| Author(s) : Previato L , Guardamagna O , Dugi KA , Ronan R , Talley GD , Santamarina-Fojo S , Brewer HB, Jr. |
| Ref : J Lipid Res , 35 :1552 , 1994 |
| Abstract : Previato_1994_J.Lipid.Res_35_1552 |
| ESTHER : Previato_1994_J.Lipid.Res_35_1552 |
| PubMedSearch : Previato_1994_J.Lipid.Res_35_1552 |
| PubMedID: 7806969 |
| Gene_locus related to this paper: human-LPL |