Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.

Lee, Chih-Hong; Lu, Chin-Song; Chuang, Wen-Li; Yeh, Tu-Hsueh; Jung, Shih-Ming; Huang, Chia-Ling; Lai, Szu-Chia

Lee, Chih-Hong; Lu, Chin-Song; Chuang, Wen-Li; Yeh, Tu-Hsueh; Jung, Shih-Ming; Huang, Chia-Ling; Lai, Szu-Chia.

Afiliação

Lee CH; Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan.
Lu CS; Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.
Chuang WL; Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.
Yeh TH; Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.
Jung SM; Department of Pathology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan.
Huang CL; Department of Neurology, Saint Paul's Hospital, Taoyuan 333, Taiwan.
Lai SC; Department of Neurology, Chang Gung Memorial Hospital at Linkou Medical Center and Chang Gung University, Taoyuan 333, Taiwan ; Neuroscience Research Center, Chang Gung Memorial Hospital at Linkou Medical Center, Taoyuan 333, Taiwan.

ScientificWorldJournal ; 2013: 860539, 2013.

Article em En | MEDLINE | ID: mdl-24348190

Assuntos

Povo Asiático/genética; Genótipo; Neurodegeneração Associada a Pantotenato-Quinase/genética; Neurodegeneração Associada a Pantotenato-Quinase/patologia; Fenótipo; População Branca/genética; Adulto; Autopsia; Encéfalo/metabolismo; Encéfalo/patologia; Eletromiografia; Evolução Fatal; Estudos de Associação Genética; Heterozigoto; Humanos; Ferro/metabolismo; Masculino; Mutação; Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico; Fosfotransferases (Aceptor do Grupo Álcool)/genética; Fosfotransferases (Aceptor do Grupo Álcool)/metabolismo; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Povo Asiático / População Branca / Genótipo / Neurodegeneração Associada a Pantotenato-Quinase Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Humans / Male Idioma: En Revista: ScientificWorldJournal Assunto da revista: MEDICINA Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Taiwan

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