Publications:

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Genes

Moiseev, Sergey S; Tao, Ekaterina E; Moiseev, Alexey A; Bulanov, Nikolay N; Filatova, Ekaterina E; Fomin, Victor V; Germain, Dominique P DP

Publication Date: 2022-09-09

Variant appearance in text: GLA: Gln386Ter

PubMed Link: 36140787

Variant Present in the following documents:

• genes-13-01619.pdf

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.

Jimd Reports

Nampoothiri, Sheela S; Yesodharan, Dhanya D; Bhattacherjee, Amrita A; Ahamed, Hisham H; Puri, Ratna Dua RD; Gupta, Neerja N; Kabra, Madhulika M; Ranganath, Prajnya P; Bhat, Meenakshi M; Phadke, Shubha S; Radha Rama Devi, Akella A; Jagadeesh, Sujatha S; Danda, Sumita S; Sylaja, Padmavathy Narayana PN; Mandal, Kausik K; Bijarnia-Mahay, Sunita S; Makkar, Ravinder R; Verma, Ishwar Chander IC; Dalal, Ashwin A; Ramaswami, Uma U

Publication Date: 2020-11

Variant appearance in text: GLA: Gln386Ter

PubMed Link: 33204599

Variant Present in the following documents:

• Main text
• JMD2-56-82.pdf

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Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.

Journal Of The American Heart Association

Yogasundaram, Haran H; Nikhanj, Anish A; Putko, Brendan N BN; Boutin, Michel M; Jain-Ghai, Shailly S; Khan, Aneal A; Auray-Blais, Christiane C; West, Michael L ML; Oudit, Gavin Y GY

Publication Date: 2018-11-06

Variant appearance in text: GLA: Q386X

PubMed Link: 30571380

Variant Present in the following documents:

• Main text
• JAH3-7-e009098.pdf

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