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Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
Cianci, Vittoria; Pascarella, Angelo; Manzo, Lucia; Gasparini, Sara; Marsico, Oreste; Mammì, Anna; Rao, Carmelo Massimiliano; Franzutti, Claudio; Aguglia, Umberto; Ferlazzo, Edoardo.
Afiliación
  • Cianci V; Regional Epilepsy Centre, "Bianchi-Melacrino-Morelli" Great Metropolitan Hospital, Reggio Calabria, Italy.
  • Pascarella A; Regional Epilepsy Centre, "Bianchi-Melacrino-Morelli" Great Metropolitan Hospital, Reggio Calabria, Italy.
  • Manzo L; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
  • Gasparini S; Regional Epilepsy Centre, "Bianchi-Melacrino-Morelli" Great Metropolitan Hospital, Reggio Calabria, Italy.
  • Marsico O; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
  • Mammì A; Regional Epilepsy Centre, "Bianchi-Melacrino-Morelli" Great Metropolitan Hospital, Reggio Calabria, Italy.
  • Rao CM; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
  • Franzutti C; Regional Epilepsy Centre, "Bianchi-Melacrino-Morelli" Great Metropolitan Hospital, Reggio Calabria, Italy.
  • Aguglia U; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
  • Ferlazzo E; Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.
Metab Brain Dis ; 38(6): 1905-1912, 2023 08.
Article en En | MEDLINE | ID: mdl-37097439
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Accidente Cerebrovascular Límite: Female / Humans / Male Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Accidente Cerebrovascular Límite: Female / Humans / Male Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Italia