TY - JOUR
T1 - Cerebrotendinous xanthomatosis
AU - Hwang, S. Y.
AU - Lee, K. H.
AU - Ahn, J. I.
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1346-8138.1990.tb03717.x
DO - 10.1111/j.1346-8138.1990.tb03717.x
M3 - Article
C2 - 2329221
AN - SCOPUS:0025353490
SN - 0385-2407
VL - 17
SP - 115
EP - 119
JO - Journal of Dermatology
JF - Journal of Dermatology
IS - 2
ER -