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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: rovelli a. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases.
Gaipa G, Dassi M, Perseghin P, Venturi N, Corti P, Bonanomi S, Balduzzi A, Longoni D, Uderzo C, Biondi A, Masera G, Parini R, Bertagnolio B, Uziel G, Peters C, Rovelli A. Gaipa G, et al. Among authors: rovelli a. Bone Marrow Transplant. 2003 May;31(10):857-60. doi: 10.1038/sj.bmt.1704024. Bone Marrow Transplant. 2003. PMID: 12748661
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: rovelli a. 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.
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: rovelli a. 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.
Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation.
Gatto F, Redaelli D, Salvadè A, Marzorati S, Sacchetti B, Ferina C, Roobrouck VD, Bertola F, Romano M, Villani G, Antolini L, Rovelli A, Verfaillie CM, Biondi A, Riminucci M, Bianco P, Serafini M. Gatto F, et al. Among authors: rovelli a. Stem Cells Dev. 2012 Jun 10;21(9):1466-77. doi: 10.1089/scd.2011.0555. Epub 2012 Mar 2. Stem Cells Dev. 2012. PMID: 22280094 Clinical Trial.
Open issues in Mucopolysaccharidosis type I-Hurler.
Parini R, Deodato F, Di Rocco M, Lanino E, Locatelli F, Messina C, Rovelli A, Scarpa M. Parini R, et al. Among authors: rovelli a. Orphanet J Rare Dis. 2017 Jun 15;12(1):112. doi: 10.1186/s13023-017-0662-9. Orphanet J Rare Dis. 2017. PMID: 28619065 Free PMC article. Review.
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: rovelli a. 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.
147 results