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Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.
Africa, Liana; Margollicci, Maria; Salvatore, Simona; Shalbafan, Bita; Peruzzi, Luana; Togha, Mansoureh; Sorrentino, Vincenzo; Federico, Antonio.
Afiliação
  • Africa L; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
  • Margollicci M; Department of Molecular and Developmental Medicine, Medical School, University of Siena, Siena, Italy.
  • Salvatore S; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
  • Shalbafan B; Iranian social security Organization, Tehran, Iran.
  • Peruzzi L; Department of Biotechnology, Chemistry and Pharmacy, Medical School, University of Siena, Siena, Italy.
  • Togha M; Headache Department, Iranian Center for Neurological Research, Neuroscience Institute and Neurology Department, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Sorrentino V; Department of Molecular and Developmental Medicine, Medical School, University of Siena, Siena, Italy.
  • Federico A; Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy. federico@unisi.it.
Neurol Sci ; 38(9): 1721-1722, 2017 09.
Article em En | MEDLINE | ID: mdl-28547031
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Periférico / Paraparesia Espástica / Leucoencefalopatias / Galactosilceramidase Limite: Adult / Female / Humans País/Região como assunto: Asia 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: Doenças do Sistema Nervoso Periférico / Paraparesia Espástica / Leucoencefalopatias / Galactosilceramidase Limite: Adult / Female / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article