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Menkes disease – An important cause of early onset refractory seizures

CONTEXT: Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities. AIMS: We aimed to evaluate the clinical, electrophysiological and radiological features of...

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Detalles Bibliográficos
Autores principales: Jain, Puneet, Kannan, Lakshminarayanan, Chakrabarty, Biswaroop, Kumar, Atin, Gupta, Neerja, Kabra, Madhulika, Gulati, Sheffali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040024/
https://www.ncbi.nlm.nih.gov/pubmed/24891895
http://dx.doi.org/10.4103/1817-1745.131471