Open AccessMenkes disease – An important cause of early onset refractory seizures
Author(s) -
Sheffali Gulati,
Puneet Jain,
Lakshminarayanan Kannan,
Biswaroop Chakrabarty,
Atin Kumar,
Neerja Gupta,
Madhulika Kabra
Publication year - 2014
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.131471
Subject(s) - medicine , pediatrics , menkes disease , neurology , cerebral atrophy , hyperintensity , disease , magnetic resonance imaging , psychiatry , radiology , copper metabolism , chemistry , organic chemistry , copper
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.
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