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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Germain, Dominique P ; Oliveira, João Paulo ; Bichet, Daniel G ; Yoo, Han-Wook ; Hopkin, Robert J ; Lemay, Roberta ; Politei, Juan ; Wanner, Christoph ; Wilcox, William R ; Warnock, David G

Journal of medical genetics, 2020-08, Vol.57 (8), p.542-551 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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2
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
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Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

Wilcox, William R. ; Oliveira, João Paulo ; Hopkin, Robert J. ; Ortiz, Alberto ; Banikazemi, Maryam ; Feldt-Rasmussen, Ulla ; Sims, Katherine ; Waldek, Stephen ; Pastores, Gregory M. ; Lee, Philip ; Eng, Christine M. ; Marodi, Laszlo ; Stanford, Kevin E. ; Breunig, Frank ; Wanner, Christoph ; Warnock, David G. ; Lemay, Roberta M. ; Germain, Dominique P.

Molecular genetics and metabolism, 2008-02, Vol.93 (2), p.112-128 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
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Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

HOPKIN, Robert J ; BISSLER, John ; BANIKAZEMI, Maryam ; CLARKE, Lorne ; ENG, Christine M ; GERMAIN, Dominique P ; LEMAY, Roberta ; TYLKI-SZYMANSKA, Anna ; WILCOX, William R

Pediatric research, 2008-11, Vol.64 (5), p.550-555 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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4
Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry
Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry
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Prognostic Indicators of Renal Disease Progression in Adults with Fabry Disease: Natural History Data from the Fabry Registry

Wanner, Christoph ; Oliveira, João P ; Ortiz, Alberto ; Mauer, Michael ; Germain, Dominique P ; Linthorst, Gabor E ; Serra, Andreas L ; Maródi, László ; Mignani, Renzo ; Cianciaruso, Bruno ; Vujkovac, Bojan ; Lemay, Roberta ; Beitner-Johnson, Dana ; Waldek, Stephen ; Warnock, David G

Clinical journal of the American Society of Nephrology, 2010-12, Vol.5 (12), p.2220-2228 [Periódico revisado por pares]

United States: American Society of Nephrology

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5
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry
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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

Wilcox, William R. ; Feldt-Rasmussen, Ulla ; Martins, Ana Maria ; Ortiz, Alberto ; Lemay, Roberta M. ; Jovanovic, Ana ; Germain, Dominique P. ; Varas, Carmen ; Nicholls, Katherine ; Weidemann, Frank ; Hopkin, Robert J. Patterson, Marc ; Zschocke, Johannes ; Morava, Eva ; Rahman, Shamima ; Peters, Verena ; Baumgartner, Matthias

JIMD Reports, Volume 38, 2018-01, Vol.38, p.45-51 [Periódico revisado por pares]

Berlin, Heidelberg: Springer Berlin Heidelberg

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6
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Germain, Dominique P ; Charrow, Joel ; Desnick, Robert J ; Guffon, Nathalie ; Kempf, Judy ; Lachmann, Robin H ; Lemay, Roberta ; Linthorst, Gabor E ; Packman, Seymour ; Scott, C Ronald ; Waldek, Stephen ; Warnock, David G ; Weinreb, Neal J ; Wilcox, William R

Journal of medical genetics, 2015-05, Vol.52 (5), p.353-358 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry
Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry
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Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

Waldek, Stephen ; Patel, Manesh R ; Banikazemi, Maryam ; Lemay, Roberta ; Lee, Philip

Genetics in medicine, 2009-11, Vol.11 (11), p.790-796 [Periódico revisado por pares]

United States

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8
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation
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Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

WARNOCK, David G ; ORTIZ, Alberto ; LEMAY, Roberta ; COLE, J. Alexander ; SVARSTAD, Einar ; WALDEK, Stephen ; GERMAIN, Dominique P ; WANNER, Christoph ; MAUER, Michael ; LINTHORST, Gabor E ; OLIVEIRA, Joao P ; SERRA, Andreas L ; MARODI, László ; MIGNANI, Renzo ; VUJKOVAC, Bojan ; BEITNER-JOHNSON, Dana

Nephrology, dialysis, transplantation, 2012-03, Vol.27 (3), p.1042-1049 [Periódico revisado por pares]

Oxford: Oxford University Press

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9
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
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
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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

Hopkin, Robert J. ; Cabrera, Gustavo ; Charrow, Joel ; Lemay, Roberta ; Martins, Ana Maria ; Mauer, Michael ; Ortiz, Alberto ; Patel, Manesh R. ; Sims, Katherine ; Waldek, Stephen ; Warnock, David G. ; Wilcox, William R.

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.151-159 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Natural history data from 182 female patients with Fabry disease in Latin America: A Fabry Registry analysis of disease burden
Natural history data from 182 female patients with Fabry disease in Latin America: A Fabry Registry analysis of disease burden
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Natural history data from 182 female patients with Fabry disease in Latin America: A Fabry Registry analysis of disease burden

Martins, Ana Maria ; Varas, Carmen ; Molt, Fernando ; Lemay, Roberta ; Politei, Juan M

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S91-S92 [Periódico revisado por pares]

Elsevier Inc

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