Ricci R - Search Results

1

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. Morrone A, et al. Among authors: ricci r. Hum Mutat. 2000;15(4):354-66. doi: 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10737981

2

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di Rocco M, Feriozzi S, Gabrielli O, Barone R, Pistone G, Spisni C, Ricci R, Zammarchi E. Morrone A, et al. Among authors: ricci r. J Med Genet. 2003 Aug;40(8):e103. doi: 10.1136/jmg.40.8.e103. J Med Genet. 2003. PMID: 12920095 Free PMC article. No abstract available.

3

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T. Sbaragli M, et al. Among authors: ricci r. Hum Mutat. 2005 Mar;25(3):320. doi: 10.1002/humu.9310. Hum Mutat. 2005. PMID: 15712269

4

[Fabry disease in Italy: first epidemiologic and collaborative study].

Ricci R, Castorina M, Di Lillo M, Antuzzi D, Frustaci A, Parini R, Menni F, Furlan F, Burlina A, Burlina A, Catuogno S, Gabrielli O, Burattini I, Borsini W, Buchner S, Ferriozzi S, Spisni C, De Vito R, Di Rocco M, Aricò M, Pistone G, Bongiorno AM, Morrone A, Cavicchi C, Zammarchi E. Ricci R, et al. Ann Ital Med Int. 2004 Oct-Dec;19(4):269-75. Ann Ital Med Int. 2004. PMID: 15678707 Italian.

5

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, Concolino D, Strisciuglio P, Feriozzi S, Di Vito R, Ravaglia R, Ricci R, Morrone A. Parini R, et al. Among authors: ricci r. Clin Genet. 2008 Sep;74(3):260-6. doi: 10.1111/j.1399-0004.2008.01012.x. Epub 2008 Apr 24. Clin Genet. 2008. PMID: 18445046

6

Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.

Buechner S, Moretti M, Burlina AP, Cei G, Manara R, Ricci R, Mignani R, Parini R, Di Vito R, Giordano GP, Simonelli P, Siciliano G, Borsini W. Buechner S, et al. Among authors: ricci r. J Neurol Neurosurg Psychiatry. 2008 Nov;79(11):1249-54. doi: 10.1136/jnnp.2008.143693. Epub 2008 Jun 5. J Neurol Neurosurg Psychiatry. 2008. PMID: 18535022

7

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Verrecchia E, Zampetti A, Antuzzi D, Ricci R, Ferri L, Morrone A, Feliciani C, Dagna L, Manna R. Verrecchia E, et al. Among authors: ricci r. Eur J Intern Med. 2016 Jul;32:26-30. doi: 10.1016/j.ejim.2016.03.015. Epub 2016 Apr 12. Eur J Intern Med. 2016. PMID: 27083555

8

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

9

Two novel mutations in the gene for human alpha-mannosidase that cause alpha-mannosidosis.

Beccari T, Bibi L, Ricci R, Antuzzi D, Burgalossi A, Costanzi E, Orlacchio A. Beccari T, et al. Among authors: ricci r. J Inherit Metab Dis. 2003;26(8):819-20. doi: 10.1023/b:boli.0000010006.87571.48. J Inherit Metab Dis. 2003. PMID: 14765545

10

Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy--a retrospective analysis from the Fabry Outcome Survey.

Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A; FOS European Investigators. Hoffmann B, et al. Among authors: ricci r. Clin J Pain. 2007 Jul-Aug;23(6):535-42. doi: 10.1097/AJP.0b013e318074c986. Clin J Pain. 2007. PMID: 17575495

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