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TÍTULO: Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community  Full Text
AUTORES: Wanner, Christoph; Ortiz, Alberto; Wilcox, William R.; Hopkin, Robert J.; Johnson, Jack; Ponce, Elvira; Ebels, Johan T.; Batista, Julie L.; Maski, Manish; Politei, Juan M.; Martins, Ana Maria; Banikazemi, Maryam; Linhart, Ales; Mauer, Michael; Oliveira, JP ; Weidemann, Frank; Germain, Dominique P.;
PUBLICAÇÃO: 2023, FONTE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 139, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef: 5
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TÍTULO: Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
AUTORES: Bichet, Daniel G.; Hopkin, Robert J.; Aguiar, Patricio; Allam, Sridhar R.; Chien, Yin Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau Ming; Olivotto, Iacopo; Politei, Juan; Rakoski, Paul; Torra, Roser; Tondel, Camilla; Hughes, Derralynn A.;
PUBLICAÇÃO: 2023, FONTE: FRONTIERS IN MEDICINE, VOLUME: 10
INDEXADO EM: Scopus WOS
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TÍTULO: Use of a rare disease registry for establishing phenotypic classification of previously unassignedGLAvariants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup
AUTORES: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLICAÇÃO: 2020, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 57, NÚMERO: 8
INDEXADO EM: Scopus WOS CrossRef: 45
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TÍTULO: A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients  Full Text
AUTORES: Robert J Hopkin; Dominique P Germain; Daniel G Bichet; Daniel J Gruskin; Roberta M Lemay; Oliveira, JP ; Juan M Politei; Christoph Wanner; William R Wilcox; Han Wook Yoo; David G Warnock;
PUBLICAÇÃO: 2018, FONTE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, NÚMERO: 2
INDEXADO EM: WOS CrossRef
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TÍTULO: A Fabry genotype-phenotype working group initiative: classifying GM mutations for male patients in the Fabry Registry  Full Text
AUTORES: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Daniel J Gruskin; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLICAÇÃO: 2017, FONTE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, NÚMERO: 1-2
INDEXADO EM: WOS CrossRef
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TÍTULO: Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: data from the Fabry Registry
AUTORES: Alberto Ortiz; Ademola Abiose; Daniel G Bichet; Gustavo Cabrera; Joel Charrow; Dominique P Germain; Robert J Hopkin; Ana Jovanovic; Ales Linhart; Sonia S Maruti; Michael Mauer; Oliveira, JP ; Manesh R Patel; Juan Politei; Stephen Waldek; Christoph Wanner; Han Wook Yoo; David G Warnock;
PUBLICAÇÃO: 2016, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, NÚMERO: 7
INDEXADO EM: Scopus WOS CrossRef: 97
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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