Publications:

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.

Journal Of Medical Genetics

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

Publication Date: 2020-08

Variant appearance in text: GLA: Cys52Gly

PubMed Link: 32161151

Variant Present in the following documents:

• jmedgenet-2019-106467supp001.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: C52G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy.

Journal Of The American Heart Association

Aguiar, Patrício P; Azevedo, Olga O; Pinto, Rui R; Marino, Jacira J; Cardoso, Carlos C; Sousa, Nuno N; Cunha, Damião D; Hughes, Derralynn D; Ducla Soares, José Luís JL

Publication Date: 2018-03-13

Variant appearance in text: GLA: C52G

PubMed Link: 29535138

Variant Present in the following documents:

• JAH3-7-e007124.pdf

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

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Warnock, David G DG; Ortiz, Alberto A; Mauer, Michael M; Linthorst, Gabor E GE; Oliveira, João P JP; Serra, Andreas L AL; Maródi, László L; Mignani, Renzo R; Vujkovac, Bojan B; Beitner-Johnson, Dana D; Lemay, Roberta R; Cole, J Alexander JA; Svarstad, Einar E; Waldek, Stephen S; Germain, Dominique P DP; Wanner, Christoph C; ,

Publication Date: 2012-03

Variant appearance in text: GLA: C52G

PubMed Link: 21804088

Variant Present in the following documents:

• Main text
• gfr420.pdf

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