Article
Ataxia with isolated vitamin E deficiency in four siblings.
Pediatric neurology - 1 Nov 1996
Shorer Z, Parvari R, Bril G, Sela B A, Moses S
Abstract excerpt
We describe 4 siblings of a consanguineous Bedouin family with Friedreich ataxia phenotype in whom low serum vitamin E levels without other indicators of fat malabsorption were detected. Although age of onset and some of the clinical features were alike in all 4 patients, the electrophysiological parameters were markedly abnormal in 2, but normal in the other 2. Erythrocytes revealed both membranous and...
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