Article
Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency.
Journal of child neurology - 1 Oct 2007
Hoffmann Chen, Ben-Zeev Bruria, Anikster Yair, Nissenkorn Andreea, Brand Natan, Kuint Jacob, Kushnir Tammar
Abstract excerpt
Isolated sulfite oxidase deficiency is a rare genetic neurometabolic disease. The first symptoms of this disorder (similar to symptoms of ischemic events) may lead to misdiagnosis and to subsequent birth of affected children in these families. This study characterizes the magnetic resonance (MR) imaging and (for the first time, to our knowledge) the MR spectroscopy features of isolated sulfite oxidase deficiency...
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