Wilson's Disease von LOUDIANOS, GEORGIOS, GITLIN, JONATHAN D.

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OC.15.4 GENOTYPE-PHENOTYPE CORRELATION IN SARDINIAN PATIENTS WITH WILSON’S DISEASE von Loddo, E., Civolani, A., Sorbello, O., Satta, S., Loudianos, G., Faa, G., Onali, S., Fantini, M.C.

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Diagnosis and phenotypic classification of Wilson disease von Ferenci, Peter, Caca, Karel, Loudianos, Georgios, Mieli-Vergani, Georgina, Tanner, Stuart, Sternlieb, Irmin, Schilsky, Michael, Cox, Diane, Berr, Frieder

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Cost analysis of Wilson's disease in Italy: a retrospective cohort study von Mennini, F.S., Cazzagon, N., Loudianos, G., Zuin, M., Battezzati, P.M., Maggiore, G., Grieco, A., Sciattella, P., Scortichini, M., Baglione, E., Senzolo, M., Mazza, S., Corte, C. Della, Tortora, A., Dato, F. Di, Matarazzo, M., Iorio, R.

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PRO114 Wilson Disease: Unmet NEEDS Emerging from the Italian Population - a Qualitative Survey Study von Zuin, M., Maggiore, G., Loudianos, G., Nebbia, G., Iorio, R., Paoloni, F., Manelli, M., Lopatriello, S., Cafiero, D.

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Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations von Loudianos, Georgios, Dessi, Valeria, Lovicu, Mario, Angius, Andrea, Altuntas, Buket, Giacchino, Raffaella, Marazzi, Maria, Marcellini, Matilde, Sartorelli, Maria Rita, Sturniolo, Giacomo Carlo, Kocak, Nurten, Yuce, Aysel, Akar, Nejat, Pirastu, Mario, Cao, Antonio

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Needleless approach to the diagnosis of Wilson's disease through a direct molecular approach von Pantani, E, Loudianos, G, Centenari, C, Caprai, S, Vitucci, P, Palla, G, Ughi, C, Maggiore, G

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Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B von Loudianos, G., Lovicu, M., Dessi, V., Tzetis, M., Kanavakis, E., Zancan, L., Zelante, L., Galvèz-Galvèz, C., Cao, A.

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P057 Persistent hypertransaminasemia in an obese child with asymptomatic Wilson disease and familiarity for parkinsonism and cardiomyopathy: a case report von Rocco, M.C., Lettieri, M., Biffaro, N., Colantuono, R., Paglia, P., Siano, M.A., Satta, S., Lepori, M.B., Loudianos, G., Mandato, C., Pacifico, R., Nazzaro, L., De Anseris, A.G.E., Di Nuzzi, A., Vajro, P.

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The −75A→C Substitution in the 5′ UTR of the Wilson Disease Gene Is a Sequence Polymorphism in the Mediterranean Population von Loudianos, Georgios, Dessi, Valeria, Lovicu, Mario, Angius, Andrea, Cao, Antonio, Pirastu, Mario

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Wilson disease mutations associated with uncommon haplotypes in mediterranean patients von LOUDIANOS, G, DESSI, V, PIRASTU, M, ANGIUS, A, LOVICU, M, LOI, A, DEIANA, M, AKAR, N, VAJRO, P, FIGUS, A, CAO, A

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Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B) von Panagiotakaki, Eleni, Tzetis, Maria, Manolaki, Nina, Loudianos, Giorgos, Papatheodorou, Athanasios, Manesis, Emmanuel, Nousia-Arvanitakis, Sanda, V, Syriopoulou, Kanavakis, Emmanuel

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Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? von Battisti, C, Dotti, M T, Loudianos, G, Dessì, V, Battistini, S, Amato, T, Rufa, A, Federico, A

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Direct Diagnosis of Wilson Disease by Molecular Genetics von Caprai, Silvia, Loudianos, Georgios, Massei, Francesco, Gori, Laura, Lovicu, Mario, Maggiore, Giuseppe

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Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect von Loudianos, Georgios, Dessi, Valeria, Lovicu, Mario, Angius, Andrea, Figus, Annalena, Lilliu, Franco, De Virgiliis, Stefano, Nurchi, Anna Maria, Deplano, Angelo, Moi, Paolo, Pirastu, Mario, Cao, Antonio

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Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect von Zappu, Antonietta, Lilliu, Franco, Podda, Rosa Anna, Loudianos, Georgios

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Genotype-phenotype correlation of the Wilson disease ATP7B gene von Leggio, Lorenzo, Addolorato, Giovanni, Loudianos, Georgios, Abenavoli, Ludovico, Gasbarrini, Giovanni

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Molecular Characterization of β-Thalassemia Intermedia in Patients of Italian Descent and Identification of Three Novel β-Thalassemia Mutations von Murru, S., Loudianos, G., Deiana, M., Camaschella, C., Sciarratta, G.V., Agosti, S., Parodi, M.I., Cerruti, P., Cao, A., Pirastu, M.

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Efficient strategy for molecular diagnosis of wilson disease in the Sardinian population von LOVICU, Mario, DESSI, Valeria, ZAPPU, Antonietta, DE VIRGILLIS, Stefano, CAO, Antonio, LOUDIANOS, Georgios

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RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease von Lovicu, Mario, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Zappu, Antonietta, Iorio, Raffaele, D'Ambrosi, Mariangela, Pellecchia, Maria Teresa, Barone, Paolo, Maggiore, Giuseppe, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

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