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Published in 2019 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_126_18
Abstract: Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the…
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Keywords:
ataxia cerebrotendinous;
xanthomatosis;
preventable ataxia;
cerebrotendinous xanthomatosis ... See more keywords