Publications:

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Plos One

Mauhin, Wladimir W; Benveniste, Olivier O; Amelin, Damien D; Montagner, Clémence C; Lamari, Foudil F; Caillaud, Catherine C; Douillard, Claire C; Dussol, Bertrand B; Leguy-Seguin, Vanessa V; D'Halluin, Pauline P; Noel, Esther E; Zenone, Thierry T; Matignon, Marie M; Maillot, François F; Ly, Kim-Heang KH; Besson, Gérard G; Willems, Marjolaine M; Labombarda, Fabien F; Masseau, Agathe A; Lavigne, Christian C; Lacombe, Didier D; Maillard, Hélène H; Lidove, Olivier O

Publication Date: 2020

Variant appearance in text: GLA: 1087C>T

PubMed Link: 32442237

Variant Present in the following documents:

• Main text
• pone.0233460.pdf

View BVdb publication page

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: R363C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

Jimd Reports

Liu, Hao-Chuan HC; Perrin, Amandine A; Hsu, Ting-Rong TR; Yang, Chia-Feng CF; Lin, Hsiang-Yu HY; Yu, Wen-Chung WC; Niu, Dau-Ming DM

Publication Date: 2015

Variant appearance in text: GLA: 1087C>T; R363C

PubMed Link: 25762495

Variant Present in the following documents:

• Main text

View BVdb publication page

A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

Human Mutation

Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2011-08

Variant appearance in text: GLA: 1087C>T; R363C

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

View BVdb publication page