Publications:

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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: 884T>G

PubMed Link: 32442237

Variant Present in the following documents:

• Main text
• pone.0233460.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: F295C

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.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: F295C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Germain, Dominique P DP; Nicholls, Kathy K; Giugliani, Roberto R; Bichet, Daniel G DG; Hughes, Derralynn A DA; Barisoni, Laura M LM; Colvin, Robert B RB; Jennette, J Charles JC; Skuban, Nina N; Castelli, Jeffrey P JP; Benjamin, Elfrida E; Barth, Jay A JA; Viereck, Christopher C

Publication Date: 2019-09

Variant appearance in text: GLA: 884T>G

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

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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: 884T>G; Phe295Cys

PubMed Link: 30064518

Variant Present in the following documents:

• Main text
• 13023_2018_Article_877.pdf

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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.

Plos One

Young-Gqamana, Brandy B; Brignol, Nastry N; Chang, Hui-Hwa HH; Khanna, Richie R; Soska, Rebecca R; Fuller, Maria M; Sitaraman, Sheela A SA; Germain, Dominique P DP; Giugliani, Roberto R; Hughes, Derralynn A DA; Mehta, Atul A; Nicholls, Kathy K; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER

Publication Date: 2013

Variant appearance in text: GLA: F295C

PubMed Link: 23472096

Variant Present in the following documents:

• Main text
• pone.0057631.pdf

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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: 884T>G; F295C

PubMed Link: 21598360

Variant Present in the following documents:

• Main text
• humu0032-0965.pdf

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Fabry disease.

Orphanet Journal Of Rare Diseases

Germain, Dominique P DP

Publication Date: 2010-11-22

Variant appearance in text: GLA: 884T>G; Phe295Cys

PubMed Link: 21092187

Variant Present in the following documents:

• Main text
• 1750-1172-5-30.pdf

View BVdb publication page

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