Menkes' disease: case report Doença de Menkes: relato de caso

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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Bibliographic Details
Main Authors: Fabio Agertt, Ana C.S. Crippa, Paulo J. Lorenzoni, Rosana H. Scola, Isac Bruck, Luciano de Paola, Carlos E. Silvado, Lineu C. Werneck
Format: Article
Language:English
Published: Academia Brasileira de Neurologia (ABNEURO) 2007-03-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100032