Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

198 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.
Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M, Morrone A, Cardinali G, Kovacs D, Aspite N, Linder D, Parini R, Feliciani C; Interdisciplinary Study Group on Fabry Disease (ISGF). Zampetti A, et al. Among authors: parini r. Br J Dermatol. 2012 Apr;166(4):712-20. doi: 10.1111/j.1365-2133.2012.10742.x. Br J Dermatol. 2012. PMID: 22452439 Review.
Fabry disease and the skin: data from FOS, the Fabry outcome survey.
Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB; FOS Investigators. Orteu CH, et al. Among authors: parini r. Br J Dermatol. 2007 Aug;157(2):331-7. doi: 10.1111/j.1365-2133.2007.08002.x. Epub 2007 Jun 15. Br J Dermatol. 2007. PMID: 17573884
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: parini r. 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
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Filoni C, Caciotti A, Carraresi L, Cavicchi C, Parini R, Antuzzi D, Zampetti A, Feriozzi S, Poisetti P, Garman SC, Guerrini R, Zammarchi E, Donati MA, Morrone A. Filoni C, et al. Among authors: parini r. Biochim Biophys Acta. 2010 Feb;1802(2):247-52. doi: 10.1016/j.bbadis.2009.11.003. Epub 2009 Nov 24. Biochim Biophys Acta. 2010. PMID: 19941952 Free PMC article.
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. 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
198 results