Parini R - Search Results

1

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Tomanin R, Zanetti A, D'Avanzo F, Rampazzo A, Gasparotto N, Parini R, Pascarella A, Concolino D, Procopio E, Fiumara A, Borgo A, Frigo AC, Scarpa M. Tomanin R, et al. Among authors: parini r. Orphanet J Rare Dis. 2014 Sep 18;9:129. doi: 10.1186/s13023-014-0129-1. Orphanet J Rare Dis. 2014. PMID: 25231261 Free PMC article.

2

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.

Di Natale P, Villani GR, Parini R, Scarpa M, Parenti G, Pontarelli G, Grosso M, Sersale G, Tomanin R, Sibilio M, Barone R, Fiumara A. Di Natale P, et al. Among authors: parini r. Biotechnol Appl Biochem. 2008 Mar;49(Pt 3):219-23. doi: 10.1042/BA20070093. Biotechnol Appl Biochem. 2008. PMID: 17672828 Clinical Trial.

3

Mucopolysaccharidosis VI: the Italian experience.

Scarpa M, Barone R, Fiumara A, Astarita L, Parenti G, Rampazzo A, Sala S, Sorge G, Parini R. Scarpa M, et al. Among authors: parini r. Eur J Pediatr. 2009 Oct;168(10):1203-6. doi: 10.1007/s00431-008-0910-z. Epub 2009 Jan 7. Eur J Pediatr. 2009. PMID: 19130082

4

Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.

Zanetti A, Ferraresi E, Picci L, Filocamo M, Parini R, Rosano C, Tomanin R, Scarpa M. Zanetti A, et al. Among authors: parini r. Eur J Hum Genet. 2009 Sep;17(9):1160-4. doi: 10.1038/ejhg.2009.19. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259130 Free PMC article.

5

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960

6

Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.

Bembi B, Pisa FE, Confalonieri M, Ciana G, Fiumara A, Parini R, Rigoldi M, Moglia A, Costa A, Carlucci A, Danesino C, Pittis MG, Dardis A, Ravaglia S. Bembi B, et al. Among authors: parini r. J Inherit Metab Dis. 2010 Dec;33(6):727-35. doi: 10.1007/s10545-010-9201-8. Epub 2010 Sep 14. J Inherit Metab Dis. 2010. PMID: 20838899 Clinical Trial.

7

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R, Concolino D, Di Rocco M, Donati MA, Fecarotta S, Ficcadenti A, Fiumara A, Furlan F, Giovannini I, Lilliu F, Mardari R, Polonara G, Procopio E, Rampazzo A, Rossi A, Sanna G, Parini R, Scarpa M. Manara R, et al. Among authors: parini r. J Inherit Metab Dis. 2011 Jun;34(3):763-80. doi: 10.1007/s10545-011-9317-5. Epub 2011 Apr 5. J Inherit Metab Dis. 2011. PMID: 21465231

8

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: parini r. 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.

9

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Leão Teles E, Valayannopoulos V; CSP Study Group. Hendriksz CJ, et al. J Inherit Metab Dis. 2013 Mar;36(2):373-84. doi: 10.1007/s10545-011-9410-9. Epub 2011 Nov 30. J Inherit Metab Dis. 2013. PMID: 22127392

10

Closed Meningo(encephalo)cele: a new feature in Hunter syndrome.

Manara R, Priante E, Grimaldi M, Santoro L, Polonara G, Parini R, Scarpa M; Italian MPS Neuroimaging Study Group. Manara R, et al. Among authors: parini r. AJNR Am J Neuroradiol. 2012 May;33(5):873-7. doi: 10.3174/ajnr.A2867. Epub 2011 Dec 22. AJNR Am J Neuroradiol. 2012. PMID: 22194384 Free PMC article.

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