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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: parini r. 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
Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation.
Corti P, Peters C, Balduzzi A, Bertagnolio B, Biondi A, Bugarin C, Dassi M, Furlan F, Gaipa G, Longoni D, Maglia O, Parini R, Perseghin P, Uderzo C, Uziel G, Masera G, Rovelli A. Corti P, et al. Among authors: parini r. Br J Haematol. 2005 Jul;130(2):249-55. doi: 10.1111/j.1365-2141.2005.05585.x. Br J Haematol. 2005. PMID: 16029453 Free article.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: parini r. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg FA. de Ru MH, et al. Among authors: parini r. Orphanet J Rare Dis. 2011 Aug 10;6:55. doi: 10.1186/1750-1172-6-55. Orphanet J Rare Dis. 2011. PMID: 21831279 Free PMC article.
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Filosto M, Scarpelli M, Tonin P, Lucchini G, Pavan F, Santus F, Parini R, Donati MA, Cotelli MS, Vielmi V, Todeschini A, Canonico F, Tomelleri G, Padovani A, Rovelli A. Filosto M, et al. Among authors: parini r. J Neurol. 2012 Dec;259(12):2699-706. doi: 10.1007/s00415-012-6572-9. Epub 2012 Jun 19. J Neurol. 2012. PMID: 22711161
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.
Aldenhoven M, Wynn RF, Orchard PJ, O'Meara A, Veys P, Fischer A, Valayannopoulos V, Neven B, Rovelli A, Prasad VK, Tolar J, Allewelt H, Jones SA, Parini R, Renard M, Bordon V, Wulffraat NM, de Koning TJ, Shapiro EG, Kurtzberg J, Boelens JJ. Aldenhoven M, et al. Among authors: parini r. Blood. 2015 Mar 26;125(13):2164-72. doi: 10.1182/blood-2014-11-608075. Epub 2015 Jan 26. Blood. 2015. PMID: 25624320 Free article.
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. 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.
198 results