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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...
Autores principales: | Jain, Puneet, Kannan, Lakshminarayanan, Chakrabarty, Biswaroop, Kumar, Atin, Gupta, Neerja, Kabra, Madhulika, Gulati, Sheffali |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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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 |
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