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Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment.

Eric P BrassBianca M L SteltenAad Verrips
Published in: JIMD reports (2020)
Chronic diarrhea persisting for years without spontaneous remission is a common feature of CTX at diagnosis. Chenodeoxycholic acid is an effective treatment for symptomatic relief of diarrhea in patients with CTX.
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