Publications:

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Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Tsukimura, Takahiro T; Tayama, Yuya Y; Shiga, Tomoko T; Hirai, Kanako K; Togawa, Tadayasu T; Sakuraba, Hitoshi H

Publication Date: 2020-12

Variant appearance in text: GLA: W245X

PubMed Link: 33072516

Variant Present in the following documents:

• Main text
• main.pdf

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: GLA: 734G>A; Trp245*

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports

Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K

Publication Date: 2018-12

Variant appearance in text: GLA: 734G>A; W245X

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Molecular Genetics And Metabolism Reports

Tsukimura, Takahiro T; Nakano, Sachie S; Togawa, Tadayasu T; Tanaka, Toshie T; Saito, Seiji S; Ohno, Kazuki K; Shibasaki, Futoshi F; Sakuraba, Hitoshi H

Publication Date: 2014

Variant appearance in text: GLA: W245X

PubMed Link: 27896103

Variant Present in the following documents:

• Main text
• main.pdf

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Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Plos One

Sueoka, Hideaki H; Ichihara, Junji J; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H

Publication Date: 2015

Variant appearance in text: GLA: W245X

PubMed Link: 25965380

Variant Present in the following documents:

• Main text
• pone.0127048.pdf

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Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

Plos One

Nakano, Sachie S; Morizane, Yoshihito Y; Makisaka, Noriko N; Suzuki, Toshihiro T; Togawa, Tadayasu T; Tsukimura, Takahiro T; Kawashima, Ikuo I; Sakuraba, Hitoshi H; Shibasaki, Futoshi F

Publication Date: 2013

Variant appearance in text: GLA: W245X

PubMed Link: 24236025

Variant Present in the following documents:

• Main text
• pone.0078588.pdf
• pone.0078588.s002.xlsx, sheet 1

View BVdb publication page

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