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Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori, Rocco; Incensi, Alex; de Pasqua, Silvia; Mignani, Renzo; Fileccia, Enrico; Santostefano, Marisa; Biagini, Elena; Rapezzi, Claudio; Palmieri, Silvia; Romani, Ilaria; Borsini, Walter; Burlina, Alessandro; Bombardi, Roberto; Caprini, Marco; Avoni, Patrizia; Donadio, Vincenzo.
Afiliação
  • Liguori R; IRCCS Institute of Neurological Sciences, Bologna, Italy.
  • Incensi A; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • de Pasqua S; IRCCS Institute of Neurological Sciences, Bologna, Italy.
  • Mignani R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Fileccia E; Department of Nephrology, Degli Infermi Hospital, Rimini, Italy.
  • Santostefano M; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Biagini E; Division of Nephrology, S. Orsola-Malpighi Hospital, Bologna, Italy.
  • Rapezzi C; Department of Cardiology, S. Orsola-Malpighi Hospital, Bologna, Italy.
  • Palmieri S; Department of Cardiology, S. Orsola-Malpighi Hospital, Bologna, Italy.
  • Romani I; Department of Cardiology, S. Orsola-Malpighi Hospital, Bologna, Italy.
  • Borsini W; NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy.
  • Burlina A; NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy.
  • Bombardi R; Department of Neurology, S. Bassiano Hospital, Bassano del Grappa (VI), Italy.
  • Caprini M; Department of Neurology, S. Bassiano Hospital, Bassano del Grappa (VI), Italy.
  • Avoni P; Laboratory of Human and General Physiology, FaBiT, University of Bologna, Bologna, Italy.
  • Donadio V; IRCCS Institute of Neurological Sciences, Bologna, Italy.
PLoS One ; 12(7): e0180581, 2017.
Article em En | MEDLINE | ID: mdl-28672034
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triexosilceramidas / Doença de Fabry / Neuropatia de Pequenas Fibras / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triexosilceramidas / Doença de Fabry / Neuropatia de Pequenas Fibras / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article