| Literature DB >> 2329221 |
Abstract
A case report on a 23-year-old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia. The level of cholestanol in urine, serum, and xanthoma mass tissues was increased, as determined by capillary gas chromatography.Entities:
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Year: 1990 PMID： 2329221 DOI： 10.1111/j.1346-8138.1990.tb03717.x
Source DB: PubMed Journal: J Dermatol ISSN： 0385-2407 Impact factor: 4.005