Publications:

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Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

Plos One

Effraimidis, Grigoris G; Rasmussen, Åse Krogh ÅK; Dunoe, Morten M; Hasholt, Lis F LF; Wibrand, Flemming F; Sorensen, Soren S SS; Lund, Allan M AM; Kober, Lars L; Bundgaard, Henning H; Yazdanfard, Puriya D W PDW; Oturai, Peter P; Larsen, Vibeke A VA; de Abreu, Vitor Hugo Fraga VHF; Enevoldsen, Lotte Hahn LH; Kristensen, Tatiana T; Svenstrup, Kirsten K; Bille, Margrethe Bastholm MB; Arif, Farah F; Mogensen, Mette M; Klokker, Mads M; Backer, Vibeke V; Kistorp, Caroline C; Feldt-Rasmussen, Ulla U

Publication Date: 2022

Variant appearance in text: GLA: 254G>A; G85D

PubMed Link: 36383556

Variant Present in the following documents:

• Main text
• pone.0277767.pdf

View BVdb publication page

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High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: G85D

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

View BVdb publication page

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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: G85D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.

Jimd Reports

Frabasil, Joaquín J; Durand, Consuelo C; Sokn, Silvia S; Gaggioli, Daniela D; Carozza, Patricia P; Carabajal, Ricardo R; Politei, Juan J; Schenone, Andrea B AB

Publication Date: 2019-07

Variant appearance in text: GLA: G85D

PubMed Link: 31392112

Variant Present in the following documents:

• Main text
• JMD2-48-45.pdf

View BVdb publication page

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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: 254G>A; Gly85Asp

PubMed Link: 30723321

Variant Present in the following documents:

• Main text
• 41436_2019_Article_451.pdf

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: G85D

PubMed Link: 27834756

Variant Present in the following documents:

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

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Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.

Plos One

Korsholm, Kirsten K; Feldt-Rasmussen, Ulla U; Granqvist, Henrik H; Højgaard, Liselotte L; Bollinger, Birgit B; Rasmussen, Aase K AK; Law, Ian I

Publication Date: 2015

Variant appearance in text: GLA: G85D

PubMed Link: 26629990

Variant Present in the following documents:

• Main text
• pone.0143940.pdf

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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: G85D

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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