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

Year Number of Results
2003 4
2004 3
2005 6
2006 2
2007 1
2008 5
2009 7
2010 7
2011 7
2012 5
2013 9
2014 11
2015 17
2016 9
2017 8
2018 13
2019 8
2020 3
2021 6
2022 3
2023 2
2024 3

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120 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.
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.
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA. Kuiper GA, et al. Among authors: parini r. Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Orphanet J Rare Dis. 2019. PMID: 30658664 Free PMC article. Review.
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Among authors: parini r. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
120 results