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[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.
Small fiber neuropathy in female patients with fabry disease.
Liguori R, Di Stasi V, Bugiardini E, Mignani R, Burlina A, Borsini W, Baruzzi A, Montagna P, Donadio V. Liguori R, et al. Muscle Nerve. 2010 Mar;41(3):409-12. doi: 10.1002/mus.21606. Muscle Nerve. 2010. PMID: 20120004
Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.
Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Üçeyler N, Zeltzer LK, Burlina A. Politei JM, et al. CNS Neurosci Ther. 2016 Jul;22(7):568-76. doi: 10.1111/cns.12542. Epub 2016 Mar 28. CNS Neurosci Ther. 2016. PMID: 27297686 Free PMC article.
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R, Incensi A, de Pasqua S, Mignani R, Fileccia E, Santostefano M, Biagini E, Rapezzi C, Palmieri S, Romani I, Borsini W, Burlina A, Bombardi R, Caprini M, Avoni P, Donadio V. Liguori R, et al. PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017. PLoS One. 2017. PMID: 28672034 Free PMC article.
Fabry disease revisited: Management and treatment recommendations for adult patients.
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR. Ortiz A, et al. Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Mol Genet Metab. 2018. PMID: 29530533 Free article. Review.
113 results