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Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
Toldo, Irene; Nosadini, Margherita; Boscardin, Chiara; Talenti, Giacomo; Manara, Renzo; Lamantea, Eleonora; Legati, Andrea; Ghezzi, Daniele; Perilongo, Giorgio; Sartori, Stefano.
Afiliação
  • Toldo I; Pediatric Neurology Unit, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy. irene.toldo@unipd.it.
  • Nosadini M; Pediatric Neurology Unit, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.
  • Boscardin C; Pediatric Neurology Unit, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.
  • Talenti G; Neuroradiology Unit, Department of Neurological Sciences, University Hospital of Padua, Padua, Italy.
  • Manara R; Neuroradiology, University of Salerno, Salerno, Italy.
  • Lamantea E; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology 'Carlo Besta', Milan, Italy.
  • Legati A; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology 'Carlo Besta', Milan, Italy.
  • Ghezzi D; Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology 'Carlo Besta', Milan, Italy.
  • Perilongo G; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Sartori S; Pediatric Neurology Unit, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy.
Metab Brain Dis ; 33(3): 805-812, 2018 06.
Article em En | MEDLINE | ID: mdl-29359243
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Medula Espinal / Encéfalo / Ácido Láctico / Leucoencefalopatias / Proteínas Ferro-Enxofre Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Metab Brain Dis Assunto da revista: CEREBRO / METABOLISMO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Medula Espinal / Encéfalo / Ácido Láctico / Leucoencefalopatias / Proteínas Ferro-Enxofre Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Metab Brain Dis Assunto da revista: CEREBRO / METABOLISMO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália