Publications by authors named "Roberta Lemay"

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Dominique P Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay

J Med Genet· August 2020

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Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
William R Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta M Lemay

JIMD Rep· May 2017

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Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.
Robert J Hopkin, Gustavo Cabrera, Joel Charrow, Roberta Lemay, Ana Maria Martins

Mol Genet Metab· September 2016

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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Dominique P Germain, Joel Charrow, Robert J Desnick, Nathalie Guffon, Judy Kempf, Roberta Lemay

J Med Genet· May 2015

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Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.
David G Warnock, Alberto Ortiz, Michael Mauer, Gabor E Linthorst, João P Oliveira, Roberta Lemay

Nephrol Dial Transplant· March 2012

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Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry.
Christoph Wanner, João P Oliveira, Alberto Ortiz, Michael Mauer, Dominique P Germain, Roberta Lemay

Clin J Am Soc Nephrol· December 2010

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Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry.
Stephen Waldek, Manesh R Patel, Maryam Banikazemi, Roberta Lemay, Philip Lee

Genet Med· November 2009

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Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
Robert J Hopkin, John Bissler, Maryam Banikazemi, Lorne Clarke, Christine M Eng, Roberta Lemay

Pediatr Res· November 2008

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Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
William R Wilcox, João Paulo Oliveira, Robert J Hopkin, Alberto Ortiz, Maryam Banikazemi, Roberta M Lemay

Mol Genet Metab· February 2008

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