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Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644
Pancreatic beta-cell specific BAG3 knockout results in chronic hyperinsulinemia inducing insulin resistance.
Damiani V, Lamolinara A, Cicalini I, Cufaro MC, Del Pizzo F, Di Marco F, Del Boccio P, Dufrusine B, Hahne M, Lattanzio R, Pieragostino D, Iezzi M, Federici M, Turco MC, Maiorana A, Dionisi-Vici C, De Laurenzi V. Damiani V, et al. Among authors: dionisi vici c. Mol Metab. 2023 Aug;74:101752. doi: 10.1016/j.molmet.2023.101752. Epub 2023 Jun 10. Mol Metab. 2023. PMID: 37308077 Free PMC article.
Congenital hyperinsulinism of a large Italian cohort: a retrospective study.
Tagliaferri F, Iannuzzi R, Canciani G, Bernabei SM, Campana C, Caviglia S, Greco B, Lepri FR, Novelli A, Pizzoferro M, Garganese MC, Spada M, Francalanci P, Dionisi-Vici C, Maiorana A. Tagliaferri F, et al. Among authors: dionisi vici c. Horm Res Paediatr. 2024 May 28. doi: 10.1159/000538943. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38806014
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Scarpa M, Barbato A, Bisconti A, Burlina A, Concolino D, Deodato F, Di Rocco M, Dionisi-Vici C, Donati MA, Fecarotta S, Fiumara A, Galeone C, Giona F, Giuffrida G, Manna R, Mariani P, Pession A, Scopinaro A, Spada M, Spandonaro F, Trifirò G, Carubbi F, Cappellini MD. Scarpa M, et al. Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7. Intern Emerg Med. 2023. PMID: 36882619
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria.
Parolisi S, Montanari C, Borghi E, Cazzorla C, Zuvadelli J, Tosi M, Barone R, Bensi G, Bonfanti C, Dionisi Vici C, Biasucci G, Burlina A, Carbone MT, Verduci E; SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism. Parolisi S, et al. Among authors: dionisi vici c. Pharmacol Res. 2023 Nov;197:106952. doi: 10.1016/j.phrs.2023.106952. Epub 2023 Oct 5. Pharmacol Res. 2023. PMID: 37804926 Free article. Review.
332 results