An Unusual Case of Ankle Joint Swelling: A Young Girl with Cerebrotendinous Xanthomatosis
Author:
Affiliation:
1. Department of Medicine, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, Maharashtra, India
Publisher
Medknow
Subject
Rheumatology
Reference7 articles.
1. Expanding the clinical spectrum of cerebrotendinous xanthomatosis:Implications for newborn screening, follow-up and treatment;Hollak;J Intern Med,2021
2. Cerebrotendinous xanthomatosis:Possible higher prevalence than previously recognized;Lorincz;Arch Neurol,2005
3. Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX);Salen;J Inherit Metab Dis,2017
4. Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid:Early versus late diagnosis;Yahalom;Clin Neuropharmacol,2013
5. Cerebrotendinous xanthomatosis;a genetic condition:Clinical profile of three patients from a rural Indian family and review of literature;Saxena;J Clin Orthop Trauma,2016
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