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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.
Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L, Crock P, Vora K, Nightingale S, Michelakakis H, Garoufi A, Lykopoulou L, Bertolini S, Calandra S. Pisciotta L, et al. Among authors: tozzi g. Atherosclerosis. 2017 Oct;265:124-132. doi: 10.1016/j.atherosclerosis.2017.08.021. Epub 2017 Aug 26. Atherosclerosis. 2017. PMID: 28881270
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.
Pasta A, Borro P, Cremonini AL, Formisano E, Tozzi G, Cecchi S, Fresa R, Labanca S, Djahandideh A, Sukkar SG, Picciotto A, Pisciotta L. Pasta A, et al. Among authors: tozzi g. Pharmacol Res Perspect. 2021 Oct;9(5):e00820. doi: 10.1002/prp2.820. Pharmacol Res Perspect. 2021. PMID: 34476902 Free PMC article.
Severe reduction of blood lysosomal acid lipase activity in cryptogenic cirrhosis: A nationwide multicentre cohort study.
Angelico F, Corradini SG, Pastori D, Fargion S, Fracanzani AL, Angelico M, Bolondi L, Tozzi G, Pujatti PL, Labbadia G, Corazza GR, Averna M, Perticone F, Croce G, Persico M, Bucci T, Baratta F, Polimeni L, Del Ben M, Violi F; LAL-Cirrhosis Collaborative Research Group. Angelico F, et al. Among authors: tozzi g. Atherosclerosis. 2017 Jul;262:179-184. doi: 10.1016/j.atherosclerosis.2017.03.038. Epub 2017 Mar 31. Atherosclerosis. 2017. PMID: 28396038
Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.
Vespasiani-Gentilucci U, Gallo P, Piemonte F, Riva E, Porcari A, Vorini F, Tozzi G, Piccioni L, Galati G, De Vincentis A, Carotti S, Morini S, D'Amico J, Angeletti S, Pedone C, Picardi A. Vespasiani-Gentilucci U, et al. Among authors: tozzi g. PLoS One. 2016 May 24;11(5):e0156113. doi: 10.1371/journal.pone.0156113. eCollection 2016. PLoS One. 2016. PMID: 27219619 Free PMC article.
152 results