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Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Pennisi, Elena Maria; Arca, Marcello; Bertini, Enrico; Bruno, Claudio; Cassandrini, Denise; D'amico, Adele; Garibaldi, Matteo; Gragnani, Francesca; Maggi, Lorenzo; Massa, Roberto; Missaglia, Sara; Morandi, Lucia; Musumeci, Olimpia; Pegoraro, Elena; Rastelli, Emanuele; Santorelli, Filippo Maria; Tasca, Elisabetta; Tavian, Daniela; Toscano, Antonio; Angelini, Corrado.
Afiliação
  • Pennisi EM; UOC of Neurology, San Filippo Neri Hospital, via Martinotti 20, 00135, Rome, Italy. elenapennisi@gmail.com.
  • Arca M; Department of Internal Medicine and Allied Sciences, Atherosclerosis Unit, Sapienza University of Rome, Rome, Italy.
  • Bertini E; IRCCS Bambin Gesù Hospital, Rome, Italy.
  • Bruno C; IRCCS Gaslini, Genova, Italy.
  • Cassandrini D; IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
  • D'amico A; IRCCS Bambin Gesù Hospital, Rome, Italy.
  • Garibaldi M; S. Andrea Hospital, La Sapienza University of Rome, Rome, Italy.
  • Gragnani F; Sandro Pertini Hospital, Neurology, Rome, Italy.
  • Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Foundation IRCCS Neurological Institute "Carlo Besta", Milan, Italy.
  • Massa R; Department of Systems Medicine, Centre of Neuromuscular Disorders, Tor Vergata University, Rome, Italy.
  • Missaglia S; CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
  • Morandi L; Neuroimmunology and Neuromuscular Diseases Unit, Foundation IRCCS Neurological Institute "Carlo Besta", Milan, Italy.
  • Musumeci O; Department of Neurosciences, University of Messina, Messina, Italy.
  • Pegoraro E; Department of Neurology, University of Padova, Padova, Italy.
  • Rastelli E; Department of Systems Medicine, Centre of Neuromuscular Disorders, Tor Vergata University, Rome, Italy.
  • Santorelli FM; IRCCS Fondazione Stella Maris, Calambrone, Pisa, Italy.
  • Tasca E; IRCCS Fondazione Ospedale S. Camillo, Venice, Italy.
  • Tavian D; CRIBENS, Catholic University of the Sacred Heart, Milan, Italy.
  • Toscano A; Department of Neurosciences, University of Messina, Messina, Italy.
  • Angelini C; IRCCS Fondazione Ospedale S. Camillo, Venice, Italy.
Orphanet J Rare Dis ; 12(1): 90, 2017 05 12.
Article em En | MEDLINE | ID: mdl-28499397
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Músculo Esquelético / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Músculo Esquelético / Erros Inatos do Metabolismo Lipídico / Doenças Musculares Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País como assunto: Europa Idioma: En Ano de publicação: 2017 Tipo de documento: Article