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• W2012628066 abstract "The authors report an 11-month-old boy with Menkes kinky hair disease who presented with global delay in acquiring milestones and repeated myoclonic jerks. He had scanty, hypopigmented scalp hairs with steely wool-like texture and intervening zones of alopecia. There was low serum ceruloplasmin (5 mg/dL) and copper (24.2 microg/dL). Neuroimaging of the brain revealed marked cerebral atrophy and significant delayed myelination. Magnetic resonance angiography showed tortuous cerebral and neck blood vessels. There was poor therapeutic response to symptomatic treatment." @default.
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• W2012628066 date "2007-04-01" @default.
• W2012628066 modified "2023-09-27" @default.
• W2012628066 title "Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations" @default.
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• W2012628066 doi "https://doi.org/10.1177/0883073807301931" @default.
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