Publications:

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: 629C>T; P210L

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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: P210L

PubMed Link: 27896103

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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: P210L

PubMed Link: 25965380

Variant Present in the following documents:

• Main text
• pone.0127048.pdf

View BVdb publication page

Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: P210L

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page