Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations

Autor: Caciotti, A. Tonin, R. Rigoldi, M. Ferri, L. Catarzi, S. Cavicchi, C. Procopio, E. Donati, M.A. Ficcadenti, A. Fiumara, A. Barone, R. Garavelli, L. Rocco, M.D. Filocamo, M. Antuzzi, D. Scarpa, M. Mooney, S.D. Li, B. Skouma, A. Bianca, S. Concolino, D. Casalone, R. Monti, E. Pantaleo, M. Giglio, S. Guerrini, R. Parini, R. Morrone, A.

Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded by the GALNS gene. We studied 37 MPS IV A patients and defined genotype-phenotype correlations based

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::bcc002e675e78ff50a76672ddbdb4a3b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088196

Kidney transplantation in patients with Fabry disease

Autor: Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder Plassmann G, Binder C, Kotanko P, Kroepfl T, Plecko B, Bodamer O, Hauser AC, Kleinert J, Kristoferitsch W, Schreiber W, Georges B, Nassogne MC, Pirson Y, Dehout F, Henry F, Roland D, Vauthier L, Goyens P, Mazoin N, Van Maldergem L, Eyskens F, Bultas J, Karetová D, Linhart A, Dostalova G, Choukroun G, Berthelot J, Hardy P, Carey Reomonnay S, Lacombe D, Bataille P, Benziane S, Mittelberger JM, Thevenot C, Dobbelaere D, Hachulla E, Dussol B, Reade R, Khau van Kien A, Kaminsky P, Guyot C, Lino M, Ghafari T, Germain DP, Knebelmann B, Lidove O, Ouali N, Touati G, Monlun E, Jaussaud R, Richalet B, Klotz V, Andres E, Caraman D, Bazex J, Perrichot R, Hennermann J, von Arnim Baas A, Stolz S, Hoffmann B, Chrobot E, Grabbe S, Jansen T, Neumann HP, Schluh G, Gal A, Muschol N, Shäfer E, Ullrich K, Das A, Illsinger S, Lücke T, Bähner F, Baron K, Beck M, Bruns K, Delgado Sanchez S, Hartung R, Kalkum G, Kampmann C, Keilmann A, Lackner K, Pitz S, Whybra C, Wiethoff C, Koletzko B, Pontz B, Böttcher T, Miethe S, Rolfs A, Davydenko I, Wanner C, Maródi L, Gabrielli O, Gobbi S, Concolino D, Zampetti A, Borsini W, Buchner S, Menni F, Parini R, Ravaglia R, Santus F, Di Vito R, Burlina A, Burlina AP, Manara R, Antuzzi D, Castorina M, Ricci R, Kaarbøe Ø, Skarbøvik A, Houge G, Svarstad E, Tøndel C, Barba MA, Botella R, Franco A, Torras J, Gómez Huertas E, Torregrosa V, Fernández V, Paniagua J, Rodriguez F, Herrera J, Febrer I, Perez Garcia A, Martin I, Barbado FJ, Garcia de Lorenzo A, López M, González J, Ballarin J, Torra R, Hernández S, Ara J, Bonal J, Pintos G, Andreu J, Rivera A, Oqvist B, Huyen Do U, Barbey F, Hayoz D, Theytaz J, Schärer M, Schulthess G, Steinmann B, Walter K, Widmer U, Hollak C, Ormel E, van Duinen A, Vetter A, Corcoran M, Cox TM, Deegan P, Ramaswami U, Wright N, Baker R, Blincoe M, Bruce R, Burns A, Close L, Davey C, Elliott J, Elliott P, Evans S, Ginsberg L, Hajioff D, Hughes D, Ioannidis A, Keshav S, Mehta A, Milligan A, Orteu C, Richfield L., STRISCIUGLIO, PIETRO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::20ede5c4651daeb1c39580f8b9c0d12f
http://hdl.handle.net/11588/490290

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

Autor: RICCI R, CASTORINA M, DI LILLO M, ANTUZZI D, FRUSTACI A, PARINI R, MENNI F, FURLAN F, BURLINA A, CATUOGNO S, GABRIELLI O, BURATTINI I, BORSINI W, BUCHNER S, FERRIOZZI S, SPISNI C, DE VITO R, DI ROCCO M, MORRONE A, CAVICCHI C, ZAMMARCHI E., ARICO', Mario, PISTONE, Giuseppe, BONGIORNO, Maria Rita

The authors sought to define the prevalence of Fabry disease and to establish the incidence and its natural history in Italy. The aim of this study was to point out the first clinical signs and symptoms to perform an early diagnosis and hence to star

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ea5065243dab924bc44b549d8973bf8e
http://hdl.handle.net/11573/491091

Early-onset basal cell carcinoma in a case of Ivemark syndrome

Autor: Zampetti, Anna, Gnarra, M, Linder, D, Antuzzi, D, Cataldi, L, Tulli, A, Feliciani, Claudio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2601::1ea8be8e9006d12d0aa8c64c00a12f55
http://hdl.handle.net/10807/42930

Low accessibility of human cardiomyocytes with advanced Fabry disease to enzyme replacement therapy

Autor: Frustaci, Andrea, Morgante, E., Antuzzi, D., Verardo, R., Russo, M. A., Chimenti, Cristina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::40e7c4345c264d898812870133f87df7
http://hdl.handle.net/11573/492461