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TITLE: Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease  Full Text
AUTHORS: van der Tol, L; Biegstraaten, M; Florquin, S; Vogt, L; Weerman, MAV; Hollak, CEM; Hughes, DA; Lachmann, RH; Oliveira, JP ; Ortiz, AA; Svarstad, E; Terryn, W; Tondel, C; Waldek, S; Wanner, C; West, ML; Linthorst, GE;
PUBLISHED: 2014, SOURCE: 10th Annual World Symposium of the Lysosomal-Disease-Network (LDN) in MOLECULAR GENETICS AND METABOLISM, VOLUME: 111, ISSUE: 2
INDEXED IN: WOS CrossRef
IN MY: ORCID
32
TITLE: Histopathological evidence of Fabry disease in a female patient with left ventricular noncompaction
AUTHORS: Martins, E ; Pinho, T; Carpenter, S; Leite, S; Garcia, R; Madureira, A; Oliveira, JP ;
PUBLISHED: 2014, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 33, ISSUE: 9
INDEXED IN: Scopus CrossRef: 15
IN MY: ORCID
33
TITLE: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTHORS: 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 ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID
34
TITLE: Fibrosis: a key feature of Fabry disease with potential therapeutic implications  Full Text
AUTHORS: Frank Weidemann; Maria D Sanchez Nino; Juan Politei; Oliveira, JP ; Christoph Wanner; David G Warnock; Alberto Ortiz;
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 86
35
TITLE: Temporal intradiploic dilative vasculopathy: An additional pathogenic factor for the hearing loss in fabry disease?
AUTHORS: Carla Pinto Moura ; Soares, C; Seixas, D; Ayres Bastos, M; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JIMD Reports, VOLUME: 7
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID
36
TITLE: Comprehensive Genetic Analysis and Structural Characterization of CYP21A2 Mutations in CAH Patients
AUTHORS: Carvalho, B; Pereira, M; Marques, CJ ; Carvalho, D ; Leao, M; Oliveira, JP ; Barros, A ; Carvalho, F ;
PUBLISHED: 2012, SOURCE: EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, VOLUME: 120, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 11
38
TITLE: Functional Transcranial Doppler: Presymptomatic Changes in Fabry Disease
AUTHORS: Elsa Azevedo ; Amelia Mendes; Daniela Seixas ; Rosa Santos; Pedro Castro ; Margarida Ayres Basto; Bernhard Rosengarten; Oliveira, JP ;
PUBLISHED: 2012, SOURCE: EUROPEAN NEUROLOGY, VOLUME: 67, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 18
40
TITLE: Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation
AUTHORS: Warnock, DG; Ortiz, A; Mauer, M; Linthorst, GE; Oliveira, JP ; Serra, AL; Marodi, L; Mignani, R; Vujkovac, B; Beitner Johnson, D; Lemay, R; Cole, A; Svarstad, E; Waldek, S; Germain, DP; Wanner, C;
PUBLISHED: 2012, SOURCE: Nephrology Dialysis Transplantation, VOLUME: 27, ISSUE: 3
INDEXED IN: Scopus
IN MY: ORCID
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