Scarpa M - 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: scarpa m. 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

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.

Sestito S, Rinninella G, Rampazzo A, D'Avanzo F, Zampini L, Santoro L, Gabrielli O, Fiumara A, Barone R, Volpi N, Scarpa M, Tomanin R, Concolino D. Sestito S, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2022 Jun 29;17(1):251. doi: 10.1186/s13023-022-02396-5. Orphanet J Rare Dis. 2022. PMID: 35768874 Free PMC article.

3

Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.

Manara R, Rampazzo A, Cananzi M, Salviati L, Mardari R, Drigo P, Tomanin R, Gasparotto N, Priante E, Scarpa M. Manara R, et al. Among authors: scarpa m. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S67-72. doi: 10.1007/s10545-009-9023-8. Epub 2010 Jan 6. J Inherit Metab Dis. 2010. PMID: 20052546

4

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: scarpa m. 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

5

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.

Mazzoccoli G, Tomanin R, Mazza T, D'Avanzo F, Salvalaio M, Rigon L, Zanetti A, Pazienza V, Francavilla M, Giuliani F, Vinciguerra M, Scarpa M. Mazzoccoli G, et al. Among authors: scarpa m. BMC Med Genomics. 2013 Oct 2;6:37. doi: 10.1186/1755-8794-6-37. BMC Med Genomics. 2013. PMID: 24083598 Free PMC article.

6

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.

7

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.

8

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

9

Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.

Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S. Brusius-Facchin AC, et al. Among authors: scarpa m. Gene. 2013 Sep 10;526(2):150-4. doi: 10.1016/j.gene.2013.05.007. Epub 2013 May 21. Gene. 2013. PMID: 23707223

10

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.

Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg FA. Langereis EJ, et al. Among authors: scarpa m. Orphanet J Rare Dis. 2013 Oct 3;8:155. doi: 10.1186/1750-1172-8-155. Orphanet J Rare Dis. 2013. PMID: 24088413 Free PMC article. Review.

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