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Menkes disease (Kinky Hair Syndrome)
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نویسنده
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saeed m. ,naseer s. ,ali q. ,malik m.a. ,sultan m.a. ,junejo z.a.
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منبع
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pakistan paediatric journal - 2012 - دوره : 36 - شماره : 3 - صفحه:167 -170
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چکیده
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Menkes disease (md) is a rare x-linked neurodegenerative disorder. it is caused by a mutation in the atpta gene,which codes for the copper transporting atpase in the cell organelles. we report a boy who presented with recurrent seizures and progressive developmental disorder. this case had typical clinical and radiological features and proven biochemically.
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کلیدواژه
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Menkes disease; Neuroimaging; Seizures; Serum copper and ceruloplasmin
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آدرس
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department of pediatric neurologist,children hopsital, Saudi Arabia, department of pediatric neurologist,children hopsital, Saudi Arabia, department of pediatric neurologist,children hopsital, Saudi Arabia, department of pediatric neurologist,children hopsital, Saudi Arabia, department of pedistrics,mayo hospital, Pakistan, department of pediatric neurologist,children hopsital, Saudi Arabia
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Authors
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