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: W340X

PubMed Link: 33072516

Variant Present in the following documents:

• Main text

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Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2021-10

Variant appearance in text: GLA: Trp340Ter

PubMed Link: 33024316

Variant Present in the following documents:

• 41436_2020_Article_1000.pdf

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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thomas, Christie P CP; Freese, Margaret E ME; Ounda, Agnes A; Jetton, Jennifer G JG; Holida, Myrl M; Noureddine, Lama L; Smith, Richard J RJ

Publication Date: 2020-06

Variant appearance in text: GLA: Trp340Ter

PubMed Link: 32203225

Variant Present in the following documents:

• Main text
• 41436_2020_Article_772.pdf

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Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Rna Biology

Lombardi, Silvia S; Ferrarese, Mattia M; Marchi, Saverio S; Pinton, Paolo P; Pinotti, Mirko M; Bernardi, Francesco F; Branchini, Alessio A

Publication Date: 2020-02

Variant appearance in text: GLA: W340X

PubMed Link: 31613176

Variant Present in the following documents:

• Main text

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Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.

Molecular Genetics And Metabolism Reports

Hossain, Mohammad Arif MA; Wu, Chen C; Yanagisawa, Hiroko H; Miyajima, Takashi T; Akiyama, Keiko K; Eto, Yoshikatsu Y

Publication Date: 2019-09

Variant appearance in text: GLA: 1019G>A; W340X

PubMed Link: 31372342

Variant Present in the following documents:

• Main text
• main.pdf

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Fabry Disease with Pacemaker Implantation as the Initial Event.

Internal Medicine (Tokyo, Japan)

Kato, Yuji Y; Ishikawa, Ayako A; Aoki, Satoshi S; Sato, Hiroyuki H; Ojima, Yoshie Y; Kagaya, Saeko S; Nagasawa, Tasuku T

Publication Date: 2019-10-15

Variant appearance in text: GLA: W340X

PubMed Link: 31243236

Variant Present in the following documents:

• Main text
• 1349-7235-58-2993.pdf

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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: 1019G>A; W340X

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.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: W340*

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.

Plos One

Nakano, Sachie S; Tsukimura, Takahiro T; Togawa, Tadayasu T; Ohashi, Toya T; Kobayashi, Masahisa M; Takayama, Katsuyoshi K; Kobayashi, Yukuharu Y; Abiko, Hiroshi H; Satou, Masatsugu M; Nakahata, Tohru T; Warnock, David G DG; Sakuraba, Hitoshi H; Shibasaki, Futoshi F

Publication Date: 2015

Variant appearance in text: GLA: W340X

PubMed Link: 26083343

Variant Present in the following documents:

• Main text
• pone.0128351.pdf

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