Publications:

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High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.

Diagnostics (Basel, Switzerland)

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Nakamura, Kimitoshi K

Publication Date: 2021-09-27

Variant appearance in text: GLA: Q357*

PubMed Link: 34679477

Variant Present in the following documents:

• Main text
• diagnostics-11-01779.pdf

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Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-11-09

Variant appearance in text: GLA: Gln357X

PubMed Link: 34535801

Variant Present in the following documents:

• Main text
• gfab234.pdf

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Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-07-19

Variant appearance in text: GLA: Gln357X

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

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Screening of Fabry disease in patients with chronic kidney disease in Japan.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Nagata, Akiko A; Nasu, Makoto M; Kaida, Yusuke Y; Nakayama, Yosuke Y; Kurokawa, Yuka Y; Nakamura, Nao N; Shibata, Ryo R; Hazama, Takuma T; Tsukimura, Takahiro T; Togawa, Tadayasu T; Saito, Seiji S; Sakuraba, Hitoshi H; Fukami, Kei K

Publication Date: 2021-12-31

Variant appearance in text: GLA: Gln357X

PubMed Link: 34282462

Variant Present in the following documents:

• gfaa324.pdf

View BVdb publication page

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Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.

Human Molecular Genetics

Welford, R W D RWD; Mühlemann, A A; Garzotti, M M; Rickert, V V; Groenen, P M A PMA; Morand, O O; Üçeyler, N N; Probst, M R MR

Publication Date: 2018-10-01

Variant appearance in text: GLA: 1069C>T; Q357X

PubMed Link: 29982630

Variant Present in the following documents:

• Main text
• ddy248.pdf

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: Q357*

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Assay And Drug Development Technologies

Valenzano, Kenneth J KJ; Khanna, Richie R; Powe, Allan C AC; Boyd, Robert R; Lee, Gary G; Flanagan, John J JJ; Benjamin, Elfrida R ER

Publication Date: 2011-06

Variant appearance in text: GLA: Q357X

PubMed Link: 21612550

Variant Present in the following documents:

• Main text

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