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TÍTULO: Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction
AUTORES: Martins, E ; Pinho, T; Carpenter, S; Leite, S; Garcia, R; Madureira, A; Oliveira, JP ;
PUBLICAÇÃO: 2014, FONTE: Revista Portuguesa de Cardiologia, VOLUME: 33, NÚMERO: 9
INDEXADO EM: Scopus CrossRef: 16
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TÍTULO: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTORES: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLICAÇÃO: 2013, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef: 17
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TÍTULO: Fibrosis: a key feature of Fabry disease with potential therapeutic implications  Full Text
AUTORES: Frank Weidemann; Maria D Sanchez Nino; Juan Politei; Oliveira, JP ; Christoph Wanner; David G Warnock; Alberto Ortiz;
PUBLICAÇÃO: 2013, FONTE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, NÚMERO: 1
INDEXADO EM: Scopus WOS CrossRef: 118
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TÍTULO: Genetic diseases and molecular genetics
AUTORES: Legendre, C; Cohen, D; Delmas, Y; Feldkamp, T; Fouque, D; Furman, R; Gaber, O; Greenbaum, L; Goodship, T; Haller, H; Herthelius, M; Hourmant, M; Licht, C; Moulin, B; Sheerin, N; Trivelli, A; Bedrosian, CL; Loirat, C; Legendre, C; Babu, S; Cohen, D; Delmas, Y; Furman, R; Gaber, O; Greenbaum, L; Hourmant, M; Jungraithmayr, T; Lebranchu, Y; Riedl, M; Sheerin, N; Bedrosian, CL; Loirat, C; Sheerin, N; Legendre, C; Greenbaum, L; Furman, R; Cohen, D; Gaber, AO; Bedrosian, C; Loirat, C; Haller, H; Licht, C; Muus, P; Legendre, C; Douglas, K; Hourmant, M; Herthelius, M; Trivelli, A; Goodship, T; Remuzzi, G; Bedrosian, C; Loirat, C; Kourouklaris, A; Ioannou, K; Athanasiou, I; Demetriou, K; Panagidou, A; Zavros, M; Rodriguez C, NY; Blasco, M; Arcal, C; Quintana, LF; Rodriguez de Cordoba, S; Campistol, JM; Bachmann, N; Eisenberger, T; Decker, C; Bolz, HJ; Bergmann, C; Pesce, F; Cox, SN; Serino, G; De Palma, G; Sallustio, FP; Schena, F; Falchi, M; Pieri, M; Stefanou, C; Zaravinos, A; Erguler, K; Lapathitis, G; Dweep, H; Sticht, C; Anastasiadou, N; Zouvani, I; Voskarides, K; Gretz, N; Deltas, CC; Ruiz, A; Bonny, O; Sallustio, F; Serino, G; Curci, C; Cox, S; De Palma, G; Schena, F; Kemter, E; Sklenak, S; Aigner, B; Wanke, R; Kitzler, TM; Moskowitz, JL; Piret, SE; Lhotta, K; Tashman, A; Velez, E; Thakker, RV; Kotanko, P; Leierer, J; Rudnicki, M; Perco, P; Koppelstaetter, C; Mayer, G; Sa, MJN; Alves, S; Storey, H; Flinter, F; Willems, PJ; Carvalho, F; Oliveira, JP ; Arsali, M; Papazachariou, L; Demosthenous, P; Lazarou, A; Hadjigavriel, M; Stavrou, C; Yioukkas, L; Voskarides, K; Deltas, C; Zavros, M; Pierides, A; Arsali, M; Demosthenous, P; Papazachariou, L; Voskarides, K; Kkolou, M; Hadjigavriel, M; Zavros, M; Deltas, C; Pierides, A; Toka, HR; Dibartolo, S; Lanske, B; Brown, EM; Pollak, MR; Familiari, A; Zavan, B; Sanna Cherchi, S; Fabris, A; Cristofaro, R; Gambaro, G; D'Angelo, A; Anglani, F; Toka, H; Mount, D; Pollak, M; Curhan, G; Sengoge, G; Bajari, T; Kupczok, A; von Haeseler, A; Schuster, M; Pfaller, W; Jennings, P; Weltermann, A; Blake, S; Sunder-Plassmann, G; Kerti, A; Csohany, R; Wagner, L; Javorszky, E; Maka, E; Tulassay, T; Tory, K; Kingswood, J; Nikolskaya, N; Mbundi, J; Kingswood, J; Jozwiak, S; Belousova, E; Frost, M; Kuperman, R; Bebin, M; Korf, B; Flamini, R; Kohrman, M; Sparagana, S; Wu, J; Brechenmacher, T; Stein, K; Bissler, J; Franz, D; Kingswood, J; Zonnenberg, B; Frost, M; Cheung, W; Wang, J; Brechenmacher, T; Lam, D; Bissler, J; Budde, K; Ivanitskiy, L; Sowershaewa, E; Krasnova, T; Samokhodskaya, L; Safarikova, M; Jana, R; Jitka, S; Obeidova, L; Kohoutova, M; Tesar, V; Evrengul, H; Ertan, P; Serdaroglu, E; Yuksel, S; Mir, S; Yang n Ergon, E; Berdeli, A; Zawada, A; Rogacev, K; Rotter, B; Winter, P; Fliser, D; Heine, G; Bataille, S; Moal, V; Berland, Y; Daniel, L; Rosado, C; Bueno, E; Fraile, P; Lucas, C; Garcoa-Cosmes, P; Tabernero, JM; Gonzalez, R; Rosado, C; Bueno, E; Fraile, P; Lucas, C; Garcia-Cosmes, P; Tabernero, JM; Gonzalez, R; Silska-Dittmar, M; Zaorska, K; Malke, A; Musielak, A; Ostalska-Nowicka, D; Zachwieja, J; K d r, V; Uz, E; Yigit, A; Altuntas, A; Yigit, B; Inal, S; Uz, E; Sezer, M; Yilmaz, R; Visciano, B; Porto, C; Acampora, E; Russo, R; Riccio, E; Capuano, I; Parenti, G; Pisani, A; Feriozzi, S; Perrin, A; West, M; Nicholls, K; Sunder-Plassmann, G; Torras, J; Cybulla, M; Conti, M; Angioi, A; Floris, M; Melis, P; Asunis, AM; Piras, D; Pani, A; Warnock, D; Guasch, A; Thomas, C; Wanner, C; Campbell, R; Vujkovac, B; Okur, I; Biberoglu, G; Ezgu, F; Tumer, L; Hasanoglu, A; Bicik, Z; Akin, Y; Mumcuoglu, M; Ecder, T; Paliouras, C; Mattas, G; Papagiannis, N; Ntetskas, G; Lamprianou, F; Karvouniaris, N; Alivanis, P; ...Mais
PUBLICAÇÃO: 2013, FONTE: Nephrology Dialysis Transplantation, VOLUME: 28, NÚMERO: suppl 1
INDEXADO EM: CrossRef: 1
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TÍTULO: Temporal intradiploic dilative vasculopathy: An additional pathogenic factor for the hearing loss in fabry disease?
AUTORES: Carla Pinto Moura ; Soares, C; Seixas, D; Ayres Bastos, M; Oliveira, JP ;
PUBLICAÇÃO: 2013, FONTE: JIMD Reports, VOLUME: 7
INDEXADO EM: Scopus CrossRef: 1
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TÍTULO: Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients
AUTORES: Carvalho, B; Pereira, M; Marques, CJ ; Carvalho, D ; Leao, M; Oliveira, JP ; Barros, A ; Carvalho, F ;
PUBLICAÇÃO: 2012, FONTE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 120, NÚMERO: 9
INDEXADO EM: Scopus WOS CrossRef: 11
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TÍTULO: Functional Transcranial Doppler: Presymptomatic Changes in Fabry Disease
AUTORES: Global COVID-19 Stroke Registry ; Amelia Mendes; Daniela Seixas ; Rosa Santos; Pedro Castro ; Margarida Ayres Basto; Bernhard Rosengarten; Oliveira, JP ;
PUBLICAÇÃO: 2012, FONTE: EUROPEAN NEUROLOGY, VOLUME: 67, NÚMERO: 6
INDEXADO EM: Scopus WOS CrossRef: 21
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TÍTULO: P24—Prognostic Indicators of Renal Disease Progression: Natural History Data From the Fabry Registry  Full Text
AUTORES: Wanner, C; Oliveira, JP ; Ortiz, A; Mauer, M; D.P Germain; G.E Linthorst; A.L Serra; Maródi, L; Mignani, R; Cianciaruso, B; Vujkovac, B; Lemay, R; Beitner-Johnson, D; Waldek, S; D.G Warnock;
PUBLICAÇÃO: 2012, FONTE: Clinical Therapeutics, VOLUME: 34, NÚMERO: 4
INDEXADO EM: CrossRef
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