Menkes' disease: case report

Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair,...

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Veröffentlicht in:	Arquivos de neuro-psiquiatria 2007-03, Vol.65 (1), p.157-160
Hauptverfasser:	Agertt, Fabio, Crippa, Ana C S, Lorenzoni, Paulo J, Scola, Rosana H, Bruck, Isac, Paola, Luciano de, Silvado, Carlos E, Werneck, Lineu C
Format:	Artikel
Sprache:	eng
Schlagworte:	Ceruloplasmin - analysis Copper - blood Electroencephalography Electromyography Humans Infant Magnetic Resonance Imaging Male Menkes Kinky Hair Syndrome - blood Menkes Kinky Hair Syndrome - diagnosis NEUROSCIENCES PSYCHIATRY
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