Scarpa M - Search Results

1

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: scarpa m. 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.

2

Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome).

Tomanin R, Friso A, Alba S, Piller Puicher E, Mennuni C, La Monica N, Hortelano G, Zacchello F, Scarpa M. Tomanin R, et al. Among authors: scarpa m. Acta Paediatr Suppl. 2002;91(439):100-4. doi: 10.1111/j.1651-2227.2002.tb03119.x. Acta Paediatr Suppl. 2002. PMID: 12572851

3

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: scarpa m. Biotechnol Appl Biochem. 2008 Mar;49(Pt 3):219-23. doi: 10.1042/BA20070093. Biotechnol Appl Biochem. 2008. PMID: 17672828 Clinical Trial.

4

Eighteen-year follow-up of the first Italian MPSI patient treated with bone marrow transplantation.

Messina C, Rampazzo A, Cesaro S, Monciotti C, Gasparotto N, Tomanin R, Scarpa M. Messina C, et al. Among authors: scarpa m. Bone Marrow Transplant. 2008 May;41(10):905-6. doi: 10.1038/sj.bmt.1705988. Epub 2008 Feb 18. Bone Marrow Transplant. 2008. PMID: 18278074 No abstract available.

5

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. 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

6

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: scarpa m. 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.

7

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

8

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: scarpa m. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9. Pediatrics. 2009. PMID: 19901005 Review.

9

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

10

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: scarpa m. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825

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