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Page 1
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A. Ferri L, et al. Among authors: fiumara a. Clin Genet. 2012 Mar;81(3):224-33. doi: 10.1111/j.1399-0004.2011.01689.x. Epub 2011 May 25. Clin Genet. 2012. PMID: 21517827
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A. Caciotti A, et al. Among authors: fiumara a. Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751. Hum Mutat. 2015. PMID: 25545067
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.
Romanello M, Zampieri S, Bortolotti N, Deroma L, Sechi A, Fiumara A, Parini R, Borroni B, Brancati F, Bruni A, Russo CV, Bordugo A, Bembi B, Dardis A. Romanello M, et al. Among authors: fiumara a. Clin Chim Acta. 2016 Apr 1;455:39-45. doi: 10.1016/j.cca.2016.01.003. Epub 2016 Jan 11. Clin Chim Acta. 2016. PMID: 26790753
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R, Caciotti A, Procopio E, Fischetto R, Deodato F, Mancardi MM, Di Rocco M, Ardissone A, Salviati A, Marangi A, Strisciuglio P, Mangone G, Casini A, Ricci S, Fiumara A, Parini R, Pavone FS, Guerrini R, Calamai M, Morrone A. Tonin R, et al. Among authors: fiumara a. Sci Rep. 2019 Nov 27;9(1):17684. doi: 10.1038/s41598-019-53995-5. Sci Rep. 2019. PMID: 31776384 Free PMC article.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Pettinato F, Mostile G, Battini R, Martinelli D, Madeo A, Biamino E, Frattini D, Garozzo D, Gasperini S, Parini R, Sirchia F, Sortino G, Sturiale L, Matthijs G, Morrone A, Di Rocco M, Rizzo R, Jaeken J, Fiumara A, Barone R. Pettinato F, et al. Among authors: fiumara a. Cerebellum. 2021 Aug;20(4):596-605. doi: 10.1007/s12311-021-01242-x. Epub 2021 Feb 22. Cerebellum. 2021. PMID: 33619652 Free PMC article.
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.
Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, Falvo F, Fiumara A, Maccarone M, Manna R, Matucci A, Musumeci MB, Nicoletti A, Nisticò R, Papadia F, Parini R, Peluso D, Pensabene L, Pisani A, Pistone G, Rigoldi M, Romani I, Tenuta M, Torti G, Veroux M, Zachara E. Concolino D, et al. Among authors: fiumara a. Mol Genet Metab Rep. 2017 Jun 22;12:85-91. doi: 10.1016/j.ymgmr.2017.06.005. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28702361 Free PMC article.
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.
188 results