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Renal and brain complications in GLA p.Phe113Leu Fabry disease. Comments on "Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males" by Oliveira et al. (Eur. J. Med. Genet. 2019).
Smirnova, Alexandra; Di Toro, Alessandro; Giuliani, Lorenzo; Tagliani, Marilena; Urtis, Mario; Favalli, Valentina; Arbustini, Eloisa.
Afiliación
  • Smirnova A; Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
  • Di Toro A; Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
  • Giuliani L; Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
  • Tagliani M; Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy.
  • Urtis M; Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy; Department of Industrial and Information Engineering, University of Pavia, Italy.
  • Favalli V; InGenomics srl, Pavia Technopole, Pavia, Italy.
  • Arbustini E; Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, University Hospital Policlinico San Matteo, Pavia, Italy. Electronic address: e.arbustini@smatteo.pv.it.
Eur J Med Genet ; 63(4): 103847, 2020 04.
Article en En | MEDLINE | ID: mdl-31945513
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry Límite: Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry Límite: Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Países Bajos