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Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.
Doheny, Dana; Srinivasan, Ram; Pagant, Silvere; Chen, Brenden; Yasuda, Makiko; Desnick, Robert J.
Affiliation
  • Doheny D; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Srinivasan R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Pagant S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Chen B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Yasuda M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
J Med Genet ; 55(4): 261-268, 2018 04.
Article in En | MEDLINE | ID: mdl-29330335

Full text: 1 Database: MEDLINE Main subject: Fabry Disease / Alpha-Galactosidase / Genetic Predisposition to Disease / Stroke Type of study: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2018 Type: Article Affiliation country: United States

Full text: 1 Database: MEDLINE Main subject: Fabry Disease / Alpha-Galactosidase / Genetic Predisposition to Disease / Stroke Type of study: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2018 Type: Article Affiliation country: United States