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: 875C>T

PubMed Link: 32442237

Variant Present in the following documents:

• Main text
• pone.0233460.pdf

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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases

Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB

Publication Date: 2020-01-29

Variant appearance in text: GLA: 875C>T; A292V

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.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: A292V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.

Orphanet Journal Of Rare Diseases

Mauhin, Wladimir W; Lidove, Olivier O; Amelin, Damien D; Lamari, Foudil F; Caillaud, Catherine C; Mingozzi, Federico F; Dzangué-Tchoupou, Gaëlle G; Arouche-Delaperche, Louiza L; 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; Froissart, Roseline R; Lacombe, Didier D; Ziza, Jean Marc JM; Hachulla, Eric E; Benveniste, Olivier O

Publication Date: 2018-07-31

Variant appearance in text: GLA: 875C>T; Ala292Val

PubMed Link: 30064518

Variant Present in the following documents:

• Main text
• 13023_2018_Article_877.pdf

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