Publications:

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Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.

Molecular Genetics & Genomic Medicine

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Matsumoto, Shirou S; Takada, Fumio F; Tsuboi, Kazuya K; Ohtake, Akira A; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-11

Variant appearance in text: GLA: 725T>C; I242T

PubMed Link: 33016649

Variant Present in the following documents:

• Main text
• MGG3-8-e1502.pdf

View BVdb publication page

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Fabry disease screening in high-risk populations in Japan: a nationwide study.

Orphanet Journal Of Rare Diseases

Yoshida, Shinichiro S; Kido, Jun J; Sawada, Takaaki T; Momosaki, Ken K; Sugawara, Keishin K; Matsumoto, Shirou S; Endo, Fumio F; Nakamura, Kimitoshi K

Publication Date: 2020-08-26

Variant appearance in text: GLA: 725T>C; I242T

PubMed Link: 32843101

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1494.pdf

View BVdb publication page

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Newborn screening for Fabry disease in the western region of Japan.

Molecular Genetics And Metabolism Reports

Sawada, Takaaki T; Kido, Jun J; Yoshida, Shinichiro S; Sugawara, Keishin K; Momosaki, Ken K; Inoue, Takahito T; Tajima, Go G; Sawada, Hirotake H; Mastumoto, Shirou S; Endo, Fumio F; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2020-03

Variant appearance in text: GLA: I242T

PubMed Link: 31956509

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: I242T

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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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: 725T>C; I242T

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: I242T

PubMed Link: 27896103

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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