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A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations.
Suzumoto, Yoko; Columbano, Valeria; Gervasi, Luciano; Giunta, Rosa; Mattina, Teresa; Trimarchi, Gabriele; Capolongo, Giovanna; Simeoni, Mariadelina; Perna, Alessandra F; Zacchia, Miriam; Toriello, Gianpiero; Pollastro, Rosa M; Rapisarda, Francesco; Capasso, Giovambattista; Trepiccione, Francesco.
Afiliação
  • Suzumoto Y; Biogem Research Institute, Ariano Irpino, Italy.
  • Columbano V; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy.
  • Gervasi L; School of Nephrology, Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Giunta R; School of Nephrology, Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Mattina T; Department of Biomedical and Biotechnological Sciences, University of Catania, Italy.
  • Trimarchi G; Department of Biomedical and Biotechnological Sciences, University of Catania, Italy.
  • Capolongo G; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy.
  • Simeoni M; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy.
  • Perna AF; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy.
  • Zacchia M; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy.
  • Toriello G; Nefrology Unit, "L. Curto Hospital", Polla, Italy.
  • Pollastro RM; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy.
  • Rapisarda F; School of Nephrology, Department of Clinical and Experimental Medicine, University of Catania, Italy.
  • Capasso G; Biogem Research Institute, Ariano Irpino, Italy.
  • Trepiccione F; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli", Naples, Italy.
Intractable Rare Dis Res ; 10(2): 95-101, 2021 May.
Article em En | MEDLINE | ID: mdl-33996354
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Intractable Rare Dis Res Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Intractable Rare Dis Res Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália