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Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Gufon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2023 Mar 14;18(1):55. doi: 10.1186/s13023-023-02647-z. Orphanet J Rare Dis. 2023. PMID: 36918897 Free PMC article. No abstract available.
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M. Diaz GA, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0. Orphanet J Rare Dis. 2022. PMID: 36517856 Free PMC article.
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Maione M, Gentile J, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Parini R, Lupica A, Scarpa M. Toscano A, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2023 Oct 27;18(1):338. doi: 10.1186/s13023-023-02919-8. Orphanet J Rare Dis. 2023. PMID: 37891668 Free PMC article.
Rare disease education in Europe and beyond: time to act.
Tumiene B, Peters H, Melegh B, Peterlin B, Utkus A, Fatkulina N, Pfliegler G, Graessner H, Hermanns S, Scarpa M, Blay JY, Ashton S, McKay L, Baynam G. Tumiene B, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2022 Dec 19;17(1):441. doi: 10.1186/s13023-022-02527-y. Orphanet J Rare Dis. 2022. PMID: 36536417 Free PMC article.
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Nabbout R, Zanello G, Baker D, Black L, Brambilla I, Buske OJ, Conklin LS, Davies EH, Julkowska D, Kim Y, Klopstock T, Nakamura H, Nielsen KG, Pariser AR, Pastor JC, Scarpa M, Smith M, Taruscio D, Groft S. Nabbout R, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2023 May 9;18(1):109. doi: 10.1186/s13023-023-02650-4. Orphanet J Rare Dis. 2023. PMID: 37161573 Free PMC article.
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on "Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158".
Hughes DA, Deegan P, Giraldo P, Göker-Alpan Ö, Lau H, Lukina E, Revel-Vilk S, Scarpa M, Botha J, Gadir N, Zimran A; GOS Steering Committee. Hughes DA, et al. Among authors: scarpa m. J Clin Med. 2023 Jun 13;12(12):4017. doi: 10.3390/jcm12124017. J Clin Med. 2023. PMID: 37373710 Free PMC article.
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
MLH1 gene promoter methylation status partially overlaps with CpG methylator phenotype (CIMP) in colorectal adenocarcinoma.
Ceccon C, Borga C, Angerilli V, Bergamo F, Munari G, Sabbadin M, Gasparello J, Schiavi F, Zovato S, Scarpa M, Urso EDL, Dei Tos AP, Luchini C, Grillo F, Lonardi S, Parente P, Fassan M. Ceccon C, et al. Among authors: scarpa m. Pathol Res Pract. 2024 Dec 21;266:155786. doi: 10.1016/j.prp.2024.155786. Online ahead of print. Pathol Res Pract. 2024. PMID: 39724851
Advancing therapeutic frontiers: a pipeline of novel drugs for luminal and perianal Crohn's disease management.
Bertin L, Crepaldi M, Zanconato M, Lorenzon G, Maniero D, de Barba C, Bonazzi E, Facchin S, Scarpa M, Ruffolo C, Angriman I, Buda A, Zingone F, Barberio B, Savarino EV. Bertin L, et al. Among authors: scarpa m. Therap Adv Gastroenterol. 2024 Dec 19;17:17562848241303651. doi: 10.1177/17562848241303651. eCollection 2024. Therap Adv Gastroenterol. 2024. PMID: 39711916 Free PMC article. Review.
712 results