1
TITLE: Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
AUTHORS: 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.;
PUBLISHED: 2023, SOURCE: FRONTIERS IN MEDICINE, VOLUME: 10
INDEXED IN: Scopus WOS
2
TITLE: 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
AUTHORS: 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;
PUBLISHED: 2020, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 57, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 45
3
TITLE: 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
AUTHORS: 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;
PUBLISHED: 2018, SOURCE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 2
INDEXED IN: WOS CrossRef
4
TITLE: A Fabry genotype-phenotype working group initiative: classifying GM mutations for male patients in the Fabry Registry  Full Text
AUTHORS: 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;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, ISSUE: 1-2
INDEXED IN: WOS CrossRef
5
TITLE: The validation of pharmacogenetics in the identification of patients with Fabry disease for treatment with migalastat  Full Text
AUTHORS: Elfrida R Benjamin; Cecilia Della Valle; Xiaoyang Y Wu; Evan Katz; Kenneth J Valenzano; Daniel G Bichet; Dominique Germain; Roberto Giugliani; Derralynn Hughes; Raphael Schiffmann; William R Wilcox; Julie L Yu; John Kirk; Jay Barth; Jeff Castelli;
PUBLISHED: 2016, SOURCE: 12th Annual WORLD Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 117, ISSUE: 2
INDEXED IN: WOS CrossRef
6
TITLE: Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: data from the Fabry Registry
AUTHORS: 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;
PUBLISHED: 2016, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 53, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 97
7
TITLE: Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families  Full Text
AUTHORS: Binu M Paul; Mark B Consugar; Moonnoh Ryan Lee; Jamie L Sundsbak; Christina M Heyer; Sandra Rossetti; Vickie J Kubly; Katharina Hopp; Vicente E Torres; Eliecer Coto; Maurizio Clementi; Nadja Bogdanova; Edgar de Almeida; Daniel G Bichet; Peter C Harris;
PUBLISHED: 2014, SOURCE: KIDNEY INTERNATIONAL, VOLUME: 85, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
8
TITLE: How well does urinary lyso-Gb(3) function as a biomarker in Fabry disease?  Full Text
AUTHORS: Christiane Auray Blais; Aime Ntwari; Joe T R Clarke; David G Warnock; Oliveira, JP ; Sarah P Young; David S Millington; Daniel G Bichet; Sandra Sirrs; Michael L West; Robin Casey; Wuh Liang Hwu; Joan M Keutzer; Kate K Zhang; Rene Gagnon;
PUBLISHED: 2010, SOURCE: CLINICA CHIMICA ACTA, VOLUME: 411, ISSUE: 23-24
INDEXED IN: Scopus WOS CrossRef: 85