Publications:

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Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Current Issues In Molecular Biology

Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S

Publication Date: 2021-06-19

Variant appearance in text: GLA: Gln312Arg

PubMed Link: 34205365

Variant Present in the following documents:

• Main text
• cimb-43-00032.pdf

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Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.

Clinical And Experimental Nephrology

Narita, Ichiei I; Ohashi, Toya T; Sakai, Norio N; Hamazaki, Takashi T; Skuban, Nina N; Castelli, Jeffrey P JP; Lagast, Hjalmar H; Barth, Jay A JA

Publication Date: 2020-02

Variant appearance in text: GLA: Q312R

PubMed Link: 31889231

Variant Present in the following documents:

• Main text
• 10157_2019_Article_1810.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: Q312R

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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Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.

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

Maruyama, Hiroki H; Miyata, Kaori K; Mikame, Mariko M; Taguchi, Atsumi A; Guili, Chu C; Shimura, Masaru M; Murayama, Kei K; Inoue, Takeshi T; Yamamoto, Saori S; Sugimura, Koichiro K; Tamita, Koichi K; Kawasaki, Toshihiro T; Kajihara, Jun J; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Teiko T; Murata, Ichijiro I; Oda, Takamasa T; Toyoda, Shigeru S; Hanawa, Kenichiro K; Fujimura, Takeo T; Ura, Shigehisa S; Matsumura, Mimiko M; Takano, Hideki H; Yamashita, Satoshi S; Matsukura, Gaku G; Tazawa, Ryushi R; Shiga, Tsuyoshi T; Ebato, Mio M; Satoh, Hiroshi H; Ishii, Satoshi S

Publication Date: 2019-01

Variant appearance in text: GLA: Q312R

PubMed Link: 29543226

Variant Present in the following documents:

• Main text
• 41436_2018_Article_239.pdf

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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: Q312R

PubMed Link: 27834756

Variant Present in the following documents:

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

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Pharmacological chaperone therapy for Fabry disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences

Ishii, Satoshi S

Publication Date: 2012

Variant appearance in text: GLA: Q312R

PubMed Link: 22241068

Variant Present in the following documents:

• pjab-88-018.pdf

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