Publications:

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A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.

Medicine

Hwang, Soojin S; Lee, Beom Hee BH; Kim, Woo-Shik WS; Kim, Dae-Seong DS; Cheon, Chong Kun CK; Lee, Chang Hwa CH; Choi, Yunha Y; Choi, Jin-Ho JH; Kim, Ja Hye JH; Yoo, Han-Wook HW

Publication Date: 2022-09-16

Variant appearance in text: GLA: 966C>G; Asp322Glu

PubMed Link: 36123934

Variant Present in the following documents:

• Main text
• medi-101-e30345.pdf

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Frontiers In Pediatrics

Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C

Publication Date: 2022

Variant appearance in text: GLA: D322E

PubMed Link: 35722479

Variant Present in the following documents:

• Main text
• fped-10-908657.pdf

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics

Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG

Publication Date: 2020-08

Variant appearance in text: GLA: Asp322Glu

PubMed Link: 32161151

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106467supp001.pdf
• jmedgenet-2019-106467.pdf

View BVdb publication page

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Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.

Journal Of The American Society Of Nephrology : Jasn

Najafian, Behzad B; Tøndel, Camilla C; Svarstad, Einar E; Gubler, Marie-Claire MC; Oliveira, João-Paulo JP; Mauer, Michael M

Publication Date: 2020-04

Variant appearance in text: GLA: 966C>G; Asp322Glu

PubMed Link: 32127409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Journal Of Medical Genetics

Heo, Sun Hee SH; Kang, Eungu E; Kim, Yoon-Myung YM; Go, Heounjeong H; Kim, Kyung Yong KY; Jung, Jae Yong JY; Kang, Minji M; Kim, Gu-Hwan GH; Kim, Jae-Min JM; Choi, In-Hee IH; Choi, Jin-Ho JH; Jung, Sung-Chul SC; Desnick, Robert J RJ; Yoo, Han-Wook HW; Lee, Beom Hee BH

Publication Date: 2017-11

Variant appearance in text: GLA: 966C>G; Asp322Glu

PubMed Link: 28835480

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.

Journal Of Medical Genetics

Mauer, Michael M; Sokolovskiy, Alexey A; Barth, Jay A JA; Castelli, Jeffrey P JP; Williams, Hadis N HN; Benjamin, Elfrida R ER; Najafian, Behzad B

Publication Date: 2017-11

Variant appearance in text: N/A

PubMed Link: 28756410

Variant Present in the following documents:

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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: D322E

PubMed Link: 27834756

Variant Present in the following documents:

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

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Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.

Jimd Reports

Goker-Alpan, Ozlem O; Gambello, Michael J MJ; Maegawa, Gustavo H B GH; Nedd, Khan J KJ; Gruskin, Daniel J DJ; Blankstein, Larry L; Weinreb, Neal J NJ

Publication Date: 2016

Variant appearance in text: GLA: D322E

PubMed Link: 26303609

Variant Present in the following documents:

• Main text

View BVdb publication page

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