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Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
Pontesilli S, Baldoli C, Rosa PAD, Cattoni A, Bernardo ME, Meregalli P, Gasperini S, Motta S, Fumagalli F, Tucci F, Baciga F, Consiglieri G, Canonico F, De Lorenzo P, Chiapparini L, Gentner B, Aiuti A, Biondi A, Rovelli A, Parini R. Pontesilli S, et al. Among authors: gasperini s. J Pediatr. 2022 Jan;240:297-301.e5. doi: 10.1016/j.jpeds.2021.09.020. Epub 2021 Sep 20. J Pediatr. 2022. PMID: 34547335
Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.
Parini R, Rigoldi M, Tedesco L, Boffi L, Brambilla A, Bertoletti S, Boncimino A, Del Longo A, De Lorenzo P, Gaini R, Gallone D, Gasperini S, Giussani C, Grimaldi M, Grioni D, Meregalli P, Messinesi G, Nichelli F, Romagnoli M, Russo P, Sganzerla E, Valsecchi G, Biondi A. Parini R, et al. Among authors: gasperini s. Mol Genet Metab Rep. 2015 Apr 22;3:65-74. doi: 10.1016/j.ymgmr.2015.03.011. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937399 Free PMC article.
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B. Parini R, et al. Among authors: gasperini s. Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0. Orphanet J Rare Dis. 2018. PMID: 29422078 Free PMC article.
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Furlan F, Rovelli A, Rigoldi M, Filocamo M, Tappino B, Friday D, Gasperini S, Mariani S, Izzi C, Bondioni MP, Gellera C, Venerando A, Villa N, Del Carmen Rodriguez Perez M, Pavan F, Biondi A, Parini R. Furlan F, et al. Among authors: gasperini s. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):128. doi: 10.1186/s13052-018-0566-x. Ital J Pediatr. 2018. PMID: 30442200 Free PMC article.
Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.
Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, Pieruzzi F, Monzani A, Pesci A, Biondi A. Faverio P, et al. Among authors: gasperini s. Int J Mol Sci. 2019 Jan 15;20(2):327. doi: 10.3390/ijms20020327. Int J Mol Sci. 2019. PMID: 30650529 Free PMC article. Review.
151 results