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Results by year

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

Year Number of Results
1980 3
1981 2
1982 1
1984 2
1985 2
1986 2
1987 4
1989 1
1990 3
1991 2
1992 4
1993 1
1994 2
1995 2
1996 4
1997 5
1998 1
1999 13
2000 9
2001 10
2002 5
2003 9
2004 15
2005 17
2006 23
2007 22
2008 28
2009 24
2010 21
2011 29
2012 36
2013 33
2014 40
2015 31
2016 28
2017 42
2018 32
2019 25
2020 24
2021 32
2022 24
2023 9
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Article type
Publication date

Search Results

547 results
Results by year
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Page 1
Mucopolysaccharidosis Type I.
Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, Matte UDS, Horovitz DD, Barth AL, Baldo G, Vairo F, Giugliani R. Kubaski F, et al. Among authors: giugliani r. Diagnostics (Basel). 2020 Mar 16;10(3):161. doi: 10.3390/diagnostics10030161. Diagnostics (Basel). 2020. PMID: 32188113 Free PMC article. Review.
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Khan SA, et al. Among authors: giugliani r. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26. Mol Genet Metab. 2017. PMID: 28595941 Free PMC article.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: giugliani r. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Among authors: giugliani r. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
Beck M, Ramaswami U, Hernberg-Ståhl E, Hughes DA, Kampmann C, Mehta AB, Nicholls K, Niu DM, Pintos-Morell G, Reisin R, West ML, Schenk J, Anagnostopoulou C, Botha J, Giugliani R. Beck M, et al. Among authors: giugliani r. Orphanet J Rare Dis. 2022 Jun 20;17(1):238. doi: 10.1186/s13023-022-02392-9. Orphanet J Rare Dis. 2022. PMID: 35725623 Free PMC article. Review.
International guidelines for the management and treatment of Morquio A syndrome.
Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R. Hendriksz CJ, et al. Among authors: giugliani r. Am J Med Genet A. 2015 Jan;167A(1):11-25. doi: 10.1002/ajmg.a.36833. Epub 2014 Oct 24. Am J Med Genet A. 2015. PMID: 25346323 Free PMC article. Review.
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.
Diaz GA, Jones SA, Scarpa M, Mengel KE, Giugliani R, Guffon N, Batsu I, Fraser PA, Li J, Zhang Q, Ortemann-Renon C. Diaz GA, et al. Among authors: giugliani r. Genet Med. 2021 Aug;23(8):1543-1550. doi: 10.1038/s41436-021-01156-3. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875845 Free PMC article. Clinical Trial.
547 results