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Page 1
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Redaelli S, Maitz S, Crosti F, Sala E, Villa N, Spaccini L, Selicorni A, Rigoldi M, Conconi D, Dalprà L, Roversi G, Bentivegna A. Redaelli S, et al. Among authors: rigoldi m. Int J Mol Sci. 2019 Mar 4;20(5):1095. doi: 10.3390/ijms20051095. Int J Mol Sci. 2019. PMID: 30836598 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: rigoldi m. 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.
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: rigoldi m. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067
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: rigoldi m. 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.
Intravenous enzyme replacement therapy: hospital vs home.
Parini R, Pozzi K, Di Mauro S, Furlan F, Rigoldi M. Parini R, et al. Among authors: rigoldi m. Br J Nurs. 2010 Jul 22-Aug 11;19(14):892-4, 896-8. doi: 10.12968/bjon.2010.19.14.49047. Br J Nurs. 2010. PMID: 20647981
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: rigoldi m. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
46 results