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Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature.
Militaru, Sebastian; Adam, Robert; Dorobantu, Lucian; Ferrazzi, Paolo; Iascone, Maria; Radoi, Viorica; Ismail, Gener; Popescu, Bogdan A; Jurcut, Ruxandra.
Afiliação
  • Militaru S; Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania.
  • Adam R; Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania.
  • Dorobantu L; Medical Genetics Laboratory, Hospital Papa Giovanni XXIII; Bergamo-Italy.
  • Ferrazzi P; Medical Genetics Laboratory, Hospital Papa Giovanni XXIII; Bergamo-Italy.
  • Iascone M; Department of Medical Genetics, Carol Davila University of Medicine and Pharmacy; Bucharest-Romania.
  • Radoi V; Centre for Hypertrophic Cardiomyopathy and Valvular Heart Disease, Monza Clinical Hospital; Bucharest-Romania.
  • Ismail G; Department of Nephrology, Fundeni Clinical Institute; Bucharest-Romania.
  • Popescu BA; Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania.
  • Jurcut R; Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania.
Anatol J Cardiol ; 22(3): 154-158, 2019 Sep.
Article em En | MEDLINE | ID: mdl-31475953

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doença de Fabry / Predisposição Genética para Doença Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Anatol J Cardiol Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Doença de Fabry / Predisposição Genética para Doença Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Anatol J Cardiol Ano de publicação: 2019 Tipo de documento: Article