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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 2
1981 2
1982 3
1983 1
1985 1
1990 1
1991 2
1993 1
1995 1
1997 1
1998 2
1999 2
2000 5
2001 1
2002 4
2003 7
2004 4
2005 8
2006 6
2007 6
2008 10
2009 11
2010 9
2011 14
2012 12
2013 12
2014 16
2015 19
2016 9
2017 11
2018 13
2019 10
2020 3
2021 6
2022 3
2023 2
2024 2

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188 results

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Page 1
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. Gentner B, et al. Among authors: parini r. N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. N Engl J Med. 2021. PMID: 34788506 Clinical Trial.
The new frame for Mucopolysaccharidoses.
Parini R, Biondi A. Parini R, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):117. doi: 10.1186/s13052-018-0549-y. Ital J Pediatr. 2018. PMID: 30442168 Free PMC article.
Enzyme replacement therapy: efficacy and limitations.
Concolino D, Deodato F, Parini R. Concolino D, et al. Among authors: parini r. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):120. doi: 10.1186/s13052-018-0562-1. Ital J Pediatr. 2018. PMID: 30442189 Free PMC article. Review.
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. 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.
Metabolic screening for the newborn.
Parini R, Corbetta C. Parini R, et al. J Matern Fetal Neonatal Med. 2011 Oct;24 Suppl 2:6-8. doi: 10.3109/14767058.2011.606617. J Matern Fetal Neonatal Med. 2011. PMID: 21770861 Review.
Multidisciplinary management of Hunter syndrome.
Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Muenzer J, et al. Among authors: parini r. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9. Pediatrics. 2009. PMID: 19901005 Review.
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Bertolini A, Rigoldi M, Cianflone A, Mariani R, Piperno A, Canonico F, Cefalo G, Carubbi F, Simonati A, Urban ML, Beccari T, Parini R. Bertolini A, et al. Among authors: parini r. Clin Dysmorphol. 2024 Jan 1;33(1):1-8. doi: 10.1097/MCD.0000000000000474. Epub 2023 Nov 23. Clin Dysmorphol. 2024. PMID: 37791705 Free PMC article.
Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.
Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M, Morrone A, Cardinali G, Kovacs D, Aspite N, Linder D, Parini R, Feliciani C; Interdisciplinary Study Group on Fabry Disease (ISGF). Zampetti A, et al. Among authors: parini r. Br J Dermatol. 2012 Apr;166(4):712-20. doi: 10.1111/j.1365-2133.2012.10742.x. Br J Dermatol. 2012. PMID: 22452439 Review.
188 results