Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Al-Maawali, A; Yoon, G; Feigenbaum, A S; Halliday, W C; Clarke, J T R; Branson, H M; Banwell, B L; Chitayat, D; Blaser, Susan I

Al-Maawali, A; Yoon, G; Feigenbaum, A S; Halliday, W C; Clarke, J T R; Branson, H M; Banwell, B L; Chitayat, D; Blaser, Susan I.

Afiliação

Al-Maawali A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Yoon G; Department of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
Feigenbaum AS; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Halliday WC; Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Clarke JT; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Branson HM; Division of Genetics, Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA.
Banwell BL; Division of Pathology, DPLM, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Blaser SI; Division of Paediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada.

Neuroradiology ; 58(10): 1035-1042, 2016 Oct.

Article em En | MEDLINE | ID: mdl-27516098

Assuntos

Biometria/métodos; Fosfolipases A2 do Grupo VI/genética; Imageamento por Ressonância Magnética/métodos; Distrofias Neuroaxonais/genética; Distrofias Neuroaxonais/patologia; Pré-Escolar; Diagnóstico Diferencial; Feminino; Predisposição Genética para Doença/genética; Humanos; Hipertrofia; Lactente; Masculino; Distrofias Neuroaxonais/diagnóstico por imagem; Reprodutibilidade dos Testes; Sensibilidade e Especificidade

Palavras-chave

Atypical INAD (NBIA2B); Clava; INAD (NBIA2A); PLAN/PLA2G6; Seitelberger's disease

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Imageamento por Ressonância Magnética / Biometria / Distrofias Neuroaxonais / Fosfolipases A2 do Grupo VI Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Neuroradiology Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Canadá

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