Publications:

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Improvement in Decline Rate of Estimated Glomerular Filtration Rate after Febuxostat Treatment in a Fabry Disease Patient with Enzyme Replacement Therapy-resistant Proteinuria.

Internal Medicine (Tokyo, Japan)

Kume, Shinji S; Yasuda-Yamahara, Mako M; Imamura-Uehara, Yoshimi Y; Kuwagata, Shogo S; Yamahara, Kosuke K; Takeda, Naoko N; Chin-Kanasaki, Masami M; Kato, Koichi K; Ohno, Seiko S; Nakagawa, Yoshihisa Y; Maegawa, Hiroshi H

Publication Date: 2022-10-15

Variant appearance in text: GLA: 288G>A

PubMed Link: 35283375

Variant Present in the following documents:

• 1349-7235-61-3077.pdf

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Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.

Journal Of Clinical Medicine

Brailova, Marina M; Clerfond, Guillaume G; Trésorier, Romain R; Minet-Quinard, Régine R; Durif, Julie J; Massoullié, Grégoire G; Pereira, Bruno B; Sapin, Vincent V; Eschalier, Romain R; Bouvier, Damien D

Publication Date: 2020-03-04

Variant appearance in text: GLA: M96I

PubMed Link: 32143453

Variant Present in the following documents:

• Main text
• jcm-09-00694.pdf

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Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.

Clinical And Experimental Nephrology

Narita, Ichiei I; Ohashi, Toya T; Sakai, Norio N; Hamazaki, Takashi T; Skuban, Nina N; Castelli, Jeffrey P JP; Lagast, Hjalmar H; Barth, Jay A JA

Publication Date: 2020-02

Variant appearance in text: GLA: M96I

PubMed Link: 31889231

Variant Present in the following documents:

• Main text
• 10157_2019_Article_1810.pdf

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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: M96I

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.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: 288G>A; M96I

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

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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: M96I

PubMed Link: 27896103

Variant Present in the following documents:

• Main text
• main.pdf

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Journal Of Medical Genetics

Hughes, Derralynn A DA; Nicholls, Kathleen K; Shankar, Suma P SP; Sunder-Plassmann, Gere G; Koeller, David D; Nedd, Khan K; Vockley, Gerard G; Hamazaki, Takashi T; Lachmann, Robin R; Ohashi, Toya T; Olivotto, Iacopo I; Sakai, Norio N; Deegan, Patrick P; Dimmock, David D; Eyskens, François F; Germain, Dominique P DP; Goker-Alpan, Ozlem O; Hachulla, Eric E; Jovanovic, Ana A; Lourenco, Charles M CM; Narita, Ichiei I; Thomas, Mark M; Wilcox, William R WR; Bichet, Daniel G DG; Schiffmann, Raphael R; Ludington, Elizabeth E; Viereck, Christopher C; Kirk, John J; Yu, Julie J; Johnson, Franklin F; Boudes, Pol P; Benjamin, Elfrida R ER; Lockhart, David J DJ; Barlow, Carrolee C; Skuban, Nina N; Castelli, Jeffrey P JP; Barth, Jay J; Feldt-Rasmussen, Ulla U

Publication Date: 2017-04

Variant appearance in text: GLA: M96I

PubMed Link: 27834756

Variant Present in the following documents:

• Main text
• jmedgenet-2016-104178.pdf
• jmedgenet-2016-104178supp001.pdf

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