Publications:

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Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling?

Plos One

Ravarotto, Verdiana V; Carraro, Gianni G; Pagnin, Elisa E; Bertoldi, Giovanni G; Simioni, Francesca F; Maiolino, Giuseppe G; Martinato, Matteo M; Landini, Linda L; Davis, Paul A PA; Calò, Lorenzo A LA

Publication Date: 2018

Variant appearance in text: GLA: 103G>C

PubMed Link: 30261035

Variant Present in the following documents:

• Main text
• pone.0204618.pdf

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Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Jimd Reports

Wilcox, William R WR; Feldt-Rasmussen, Ulla U; Martins, Ana Maria AM; Ortiz, Alberto A; Lemay, Roberta M RM; Jovanovic, Ana A; Germain, Dominique P DP; Varas, Carmen C; Nicholls, Katherine K; Weidemann, Frank F; Hopkin, Robert J RJ

Publication Date: 2018

Variant appearance in text: GLA: G35R

PubMed Link: 28510034

Variant Present in the following documents:

• Main text

View BVdb publication page

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Journal Of Medical Genetics

Hughes, Derralynn A DA; Nicholls, Kathleen K; Shankar, Suma P SP; Sunder-Plassmann, Gere G; Koeller, David D; Nedd, Khan K; Vockley, Gerard G; Hamazaki, Takashi T; Lachmann, Robin R; Ohashi, Toya T; Olivotto, Iacopo I; Sakai, Norio N; Deegan, Patrick P; Dimmock, David D; Eyskens, François F; Germain, Dominique P DP; Goker-Alpan, Ozlem O; Hachulla, Eric E; Jovanovic, Ana A; Lourenco, Charles M CM; Narita, Ichiei I; Thomas, Mark M; Wilcox, William R WR; Bichet, Daniel G DG; Schiffmann, Raphael R; Ludington, Elizabeth E; Viereck, Christopher C; Kirk, John J; Yu, Julie J; Johnson, Franklin F; Boudes, Pol P; Benjamin, Elfrida R ER; Lockhart, David J DJ; Barlow, Carrolee C; Skuban, Nina N; Castelli, Jeffrey P JP; Barth, Jay J; Feldt-Rasmussen, Ulla U

Publication Date: 2017-04

Variant appearance in text: GLA: G35R

PubMed Link: 27834756

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104178supp001.pdf
• jmedgenet-2016-104178.pdf

View BVdb publication page

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: 103G>C; G35R

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

View BVdb publication page

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Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E

Publication Date: 2016-05-04

Variant appearance in text: GLA: G35R

PubMed Link: 27142856

Variant Present in the following documents:

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: G35R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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