Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment
Author:
Affiliation:
1. Department of Medicine, David Geffen School of Medicine at UCLA Los Angeles California USA
2. Department of Neurology Catharina Hospital Eindhoven The Netherlands
3. Department of Neurology Canisius Wilhelmina Hospital Nijmegen The Netherlands
Publisher
Wiley
Subject
Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12163
Reference15 articles.
1. Mutations in the bile acid biosynthetic enzyme sterol 27‐hydroxylase underlie cerebrotendinous xanthomatosis;Cali JJ;J Biol Chem,1991
2. Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
3. Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid
4. Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat
5. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
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