A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis
Author:
Publisher
Elsevier BV
Subject
Orthopedics and Sports Medicine,Surgery
Link
http://www.springerlink.com/index/pdf/10.1007/s00776-011-0072-0
Reference4 articles.
1. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations;Moghadasian;Arch Neurol.,2002
2. A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis;Nakashima;J Lipid Res.,1994
3. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds;Moghadasian;Clin Invest Med.,2004
4. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype;Guyant-Marechal;Am J Med Genet.,2005
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1. Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene;Orphanet Journal of Rare Diseases;2024-02-09
2. First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century;Clinical Genetics;2021-11-24
3. Cerebrotendinous xanthomatosis without neurological involvement;Journal of Internal Medicine;2021-04-08
4. Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis;Orphanet Journal of Rare Diseases;2019-12
5. Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review;Journal of Clinical Lipidology;2019-11
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