Article
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
Clinical genetics - 1 Apr 2011
Drousiotou A, DiMeo I, Mineri R, Georgiou Th, Stylianidou G, Tiranti V
Abstract excerpt
Ethylmalonic encephalopathy (EE, OMIM # 602473) is an autosomal recessive metabolic disorder of infancy affecting the brain, the gastrointestinal tract and peripheral vessels. It is caused by a defect in the ETHE1 gene product, which was recently shown to be part of a metabolic pathway devoted to sulphide detoxification. We report the application of improved biochemical and molecular approaches to the diagnosis...
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