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Page 1
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: fiumara a. 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
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, Bembi B, Dardis A, Fiumara A, Di Rocco M, Uziel G, Ardissone A, Roccatello D, Alpa M, Bertini E, D'Amico A, Dionisi-Vici C, Deodato F, Caviglia S, Federico A, Palmeri S, Gabrielli O, Santoro L, Filla A, Russo C, Parenti G, Andria G. Fecarotta S, et al. Among authors: fiumara a. Orphanet J Rare Dis. 2015 Feb 27;10:22. doi: 10.1186/s13023-015-0240-y. Orphanet J Rare Dis. 2015. PMID: 25888393 Free PMC article. Clinical Trial.
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach.
Gabrielli O, Zampini L, Monachesi C, Marchesiello RL, Padella L, Santoro L, Volpi N, Concolino D, Fiumara A, Rigon L, Mazzoli M, Carnielli VP, Giovagnoni A, Catassi C, Galeazzi T, Coppa GV. Gabrielli O, et al. Among authors: fiumara a. Clin Chim Acta. 2017 May;468:150-151. doi: 10.1016/j.cca.2017.02.020. Epub 2017 Feb 28. Clin Chim Acta. 2017. PMID: 28257882 No abstract available.
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R, De Lorenzo P, Dardis A, Burlina A, Cassio A, Cavarzere P, Concolino D, Della Casa R, Deodato F, Donati MA, Fiumara A, Gasperini S, Menni F, Pagliardini V, Sacchini M, Spada M, Taurisano R, Valsecchi MG, Di Rocco M, Bembi B. Parini R, et al. Among authors: fiumara a. Orphanet J Rare Dis. 2018 Feb 8;13(1):32. doi: 10.1186/s13023-018-0771-0. Orphanet J Rare Dis. 2018. PMID: 29422078 Free PMC article.
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis.
Maccari F, Galeotti F, Mantovani V, Zampini L, Padella L, Rigon L, Concolino D, Fiumara A, Pascale E, Pittalà A, Galeazzi T, Monachesi C, Marchesiello RL, Coppa G, Gabrielli O, Volpi N. Maccari F, et al. Among authors: fiumara a. Anal Biochem. 2018 Sep 15;557:34-41. doi: 10.1016/j.ab.2018.07.007. Epub 2018 Jul 18. Anal Biochem. 2018. PMID: 30009765
False positive screen test for mucopolysaccharidoses in healthy female newborns.
Monachesi C, Zampini L, Padella L, Marchesiello RL, Galeazzi T, Santoro L, Catassi C, Gasparrini E, Carnielli VP, Volpi N, Fiumara A, Concolino D, Tomanin R, Coppa GV, Gabrielli O. Monachesi C, et al. Among authors: fiumara a. Clin Chim Acta. 2018 Nov;486:221-223. doi: 10.1016/j.cca.2018.08.016. Epub 2018 Aug 12. Clin Chim Acta. 2018. PMID: 30110607
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: fiumara a. 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
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. 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.
188 results