Publications:

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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.

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: Ala292Thr

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: A292T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Indian Journal Of Nephrology

Jaurretche, Sebastián P A SPA; Antongiovanni, Norberto N; Perretta, Fernando F

Publication Date: 2019

Variant appearance in text: GLA: A292T

PubMed Link: 31798221

Variant Present in the following documents:

• Main text

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Major Organic Involvement in Women with Fabry Disease in Argentina.

Thescientificworldjournal

Perretta, Fernando F; Antongiovanni, Norberto N; Jaurretche, Sebastián S

Publication Date: 2018

Variant appearance in text: GLA: A292T

PubMed Link: 29950951

Variant Present in the following documents:

• Main text
• TSWJ2018-6515613.pdf

View BVdb publication page

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Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.

International Journal Of Nephrology

Trimarchi, Hernán H; Canzonieri, Romina R; Schiel, Amalia A; Politei, Juan J; Costales-Collaguazo, Cristian C; Stern, Aníbal A; Paulero, Matías M; Rengel, Tatiana T; Valiño-Rivas, Lara L; Forrester, Mariano M; Lombi, Fernando F; Pomeranz, Vanesa V; Iriarte, Romina R; Muryan, Alexis A; Ortiz, Alberto A; Sanchez-Niño, María Dolores MD; Zotta, Elsa E

Publication Date: 2017

Variant appearance in text: GLA: A292T

PubMed Link: 28523190

Variant Present in the following documents:

• Main text
• IJN2017-1287289.pdf

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Increased urinary CD80 excretion and podocyturia in Fabry disease.

Journal Of Translational Medicine

Trimarchi, H H; Canzonieri, R R; Schiel, A A; Costales-Collaguazo, C C; Politei, J J; Stern, A A; Paulero, M M; Rengel, T T; Andrews, J J; Forrester, M M; Lombi, M M; Pomeranz, V V; Iriarte, R R; Muryan, A A; Zotta, E E; Sanchez-Niño, M D MD; Ortiz, A A

Publication Date: 2016-10-13

Variant appearance in text: GLA: A292T

PubMed Link: 27733175

Variant Present in the following documents:

• Main text
• 12967_2016_Article_1049.pdf

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Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Plos One

Wijburg, Frits A FA; Bénichou, Bernard B; Bichet, Daniel G DG; Clarke, Lorne A LA; Dostalova, Gabriela G; Fainboim, Alejandro A; Fellgiebel, Andreas A; Forcelini, Cassiano C; An Haack, Kristina K; Hopkin, Robert J RJ; Mauer, Michael M; Najafian, Behzad B; Scott, C Ronald CR; Shankar, Suma P SP; Thurberg, Beth L BL; Tøndel, Camilla C; Tylki-Szymańska, Anna A; Ramaswami, Uma U

Publication Date: 2015

Variant appearance in text: GLA: 874G>A; Ala292Thr

PubMed Link: 25955246

Variant Present in the following documents:

• Main text
• pone.0124987.pdf

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