Familial intermittent ataxia with possible X-linked recessive inheritance
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference24 articles.
1. Disorders of pyruvate metabolism;Blass;Neurology,1979
2. A defect in pyruvate decarboxylase in a child with an intermittent movement disorder;Blass;J. Clin. Invest.,1970
3. Clinical studies of a patient with pyruvate decarboxylase deficiency;Blass;Arch. Neurol. (Chic.),1971
4. Low activity of the pyruvate and oxoglutarate dehydrogenase complex in five patients with Friedreich's ataxia;Blass;N. Engl. J. Med.,1976
5. Familial periodic ataxia;Donat;Arch. Neurol. (Chic.),1979
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