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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. Among authors: giuffrida g. 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
Minimal disease activity in Gaucher disease: criteria for definition.
Di Rocco M, Andria G, Bembi B, Carubbi F, Giona F, Giuffrida G, Linari S, Sibilio M, Spina V, Cappellini MD. Di Rocco M, et al. Among authors: giuffrida g. Mol Genet Metab. 2012 Nov;107(3):521-5. doi: 10.1016/j.ymgme.2012.08.009. Epub 2012 Aug 17. Mol Genet Metab. 2012. PMID: 22954583
Consensus statements on vaccination in patients with haemophilia-Results from the Italian haemophilia and vaccinations (HEVA) project.
Santagostino E, Riva A, Cesaro S, Esposito S, Matino D, Mazzucchelli RI, Molinari AC, Mura R, Notarangelo LD, Tagliaferri A, Di Minno G, Clerici M; the HEVA Study Group. Santagostino E, et al. Haemophilia. 2019 Jul;25(4):656-667. doi: 10.1111/hae.13756. Epub 2019 Apr 16. Haemophilia. 2019. PMID: 30990961 Free PMC article.
Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?
Di Rocco M, Di Fonzo A, Barbato A, Cappellini MD, Carubbi F, Giona F, Giuffrida G, Linari S, Pession A, Quarta A, Scarpa M, Spada M, Strisciuglio P, Andria G. Di Rocco M, et al. Among authors: giuffrida g. Orphanet J Rare Dis. 2020 Sep 23;15(1):262. doi: 10.1186/s13023-020-01529-y. Orphanet J Rare Dis. 2020. PMID: 32967694 Free PMC article.
340 results