未登录Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA)
Tarugi, Patrizia; Bertolini, Stefano; Calandra, Sebastiano; Arca, Marcello; Angelico, Francesco; Casula, Manuela; Cefalu, Angelo B.; D'Erasmo, Laura; Fortunato, Giuliana; Perrone-Filardi, Pasquale; Rubba, Paolo; Suppressa, Patrizia; Averna, Maurizio; Catapano, Alberico L. .png)
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收藏Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN RegistryD'Erasmo, Laura; Bini, Simone; Casula, Manuela; Gazzotti, Marta; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia; Averna, Maurizio; Iannuzzo, Gabriella; Fortunato, Giuliana; Catapano, Alberico L.; Arca, Marcello 分享 收藏 Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric GroupPederiva, Cristina; Gazzotti, Marta; Arca, Marcello; Averna, Maurizio; Banderali, Giuseppe; Biasucci, Giacomo; Brambilla, Marta; Buonuomo, Paola Sabrina; Calabro, Paolo; Cipollone, Francesco; Citroni, Nadia; D'Addato, Sergio; Del Ben, Maria; Genovesi, Simonetta; Guardamagna, Ornella; Iannuzzo, Gabriella; Iughetti, Lorenzo; Mandraffino, Giuseppe; Maroni, Lorenzo; Mombelli, Giuliana; Muntoni, Sandro; Nascimbeni, Fabio; Passaro, Angelina; Pellegatta, Fabio; Pirro, Matteo; Pisciotta, Livia; Pujia, Roberta; Sarzani, Riccardo; Scicali, Roberto; Suppressa, Patrizia; Zambon, Sabina; Zenti, Maria Grazia; Calandra, Sebastiano; Catapano, Alberico Luigi; Tarugi, Patrizia; Galimberti, Federica; Casula, Manuela; Capra, Maria Elena 分享 收藏 分享 收藏 Transcriptional regulation of human CYP27 integrates retinoid, peroxisome proliferator-activated receptor, and liver X receptor signaling in macrophagesSzanto, A; Benko, S; Szatmari, I; Balint, BL; Furtos, I; Rühl, R; Molnar, S; Csiba, L; Garuti, R; Calandra, S; Larsson, H; Diczfalusy, U; Nagy, L 分享 收藏 Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipasePisciotta, Livia; Ossoli, Alice; Ronca, Annalisa; Garuti, Anna; Fresa, Raffaele; Favari, Elda; Calabresi, Laura; Calandra, Sebastiano; Bertolini, Stefano 分享 收藏 Search for familial hypercholesterolemia patients in an Italian community: A real-life retrospective studyFasano, Tommaso; Trenti, Chiara; Negri, Emanuele A.; Guiducci, Vincenzo; Foracchia, Marco; Bonelli, Efrem; Canovi, Simone; Besutti, Giulia; Bertolini, Stefano; Calandra, Sebastiano 分享 收藏 分享 收藏 In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemiaRabacchi, Claudio; Simone, Maria Luisa; Pisciotta, Livia; Di Leo, Enza; Bocchi, Davide; Pietrangelo, Antonello; D'Addato, Sergio; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia 分享 收藏 Novel mutations of SAR1B gene in four children with chylomicron retention diseaseSimone, Maria Luisa; Rabacchi, Claudio; Kuloglu, Zarife; Kansu, Aydan; Ensari, Arzu; Demir, Arzu Meltem; Hizal, Gulin; Di Leo, Enza; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia 分享 收藏 分享 收藏 分享 收藏 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一系列儿童期发病的溶酶体酸性脂肪酶缺乏症患者的分子和临床特征。两种新型LIPA致病变异的回顾性调查、随访和检测Pisciotta, Livia; Tozzi, Giulia; Travaglini, Lorena; Taurisano, Roberta; Lucchi, Tiziano; Indolfi, Giuseppe; Papadia, Francesco; Di Rocco, Maja; D'Antiga, Lorenzo; Crock, Patricia; Vora, Komal; Nightingale, Scott; Michelakakis, Helen; Garoufi, Anastasia; Lykopoulou, Lilia; Bertolini, Stefano; Calandra, Sebastiano 分享 收藏 CHARACTERIZATION OF ITALIAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA: THE LIPIGEN STUDYCasula, Manuela; Chiodo, Lorenzo; Garlaschelli, Katia; Galimberti, Federica; Arca, Marcello; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico Luigi; Tarugi, Patrizia 分享 收藏 Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutationsMinuz, Pietro; Meneguzzi, Alessandra; Femia, Eti Alessandra; Fava, Cristiano; Calabria, Stefano; Scavone, Mariangela; Benati, Donatella; Poli, Giovanni; Zancanaro, Carlo; Calandra, Sebastiano; Lucchi, Tiziano; Cattaneo, Marco 分享 收藏 Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemiaBuonuomo, Paola Sabrina; Iughetti, Lorenzo; Pisciotta, Livia; Rabacchi, Claudio; Papadia, Francesco; Bruzzi, Patrizia; Tummolo, Albina; Bartuli, Andrea; Cortese, Claudio; Bertolini, Stefano; Calandra, Sebastiano 分享 收藏 分享 收藏 Molecular diagnosis of hypobetalipoproteinemia: An ENID review (vol 195, pg e19, 2016)Tarugi, Patrizia; Averna, Maurizio; Di Leo, Enza; Cefalu, Angelo B.; Noto, Davide; Magnolo, Lucia; Cattin, Luigi; Bertolini, Stefano; Calandra, Sebastiano 分享 收藏 分享 收藏 分享 收藏 
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