Publications:

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: Gly85Val

PubMed Link: 34205365

Variant Present in the following documents:

• Main text
• cimb-43-00032.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: G85V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: G85V

PubMed Link: 29543226

Variant Present in the following documents:

• Main text
• 41436_2018_Article_239.pdf

View BVdb publication page