- Cerebrotendinous Xanthomatosis With Spinal Cord Syndrome
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Yoo S, Kim S, Bae DW, Park IS, Kim JS, Lee KS
- KMID: 2343538
- J Korean Neurol Assoc.
- 2014 Aug;32(3):215-217.
No abstract available. -
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- A Case of Cerebrotendinous Xanthomatosis
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Lee SW, Choi EH, Ahn SK
- KMID: 2086601
- Korean J Dermatol.
- 2002 Oct;40(10):1261-1263.
Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum... -
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- Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report
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Yoon JY, Kim MW, Do HJ, Jang DH, Lee HW
- KMID: 2389491
- Ann Rehabil Med.
- 2017 Apr;41(2):313-317.
- doi: 10.5535/arm.2017.41.2.313
Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral... -
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- Normolipemic Tendinous and Tuberous Xanthomatosis: One Case Report
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Kang CJ, Ha SH, Lee SH, Chung YJ, Chung CY
- KMID: 2445428
- J Korean Orthop Assoc.
- 1989 Oct;24(5):1512-1515.
- doi: 10.4055/jkoa.1989.24.5.1512
A xanthoma is a localized collection of tissue histiocytes containing lipid and is usually associated with hyperlipidemia. Tendinous and tuberous xanthomatosis have been found in association with familial hypercholesterolemia, Type... -
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- A Case of preeumect Cerebrotedinous Xanthomatosis
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Lee SJ, Lew M, Kim SJ
- KMID: 1949405
- J Korean Ophthalmol Soc.
- 1988 Aug;29(4):775-782.
Cerebrotendinous xanthomatosis is a very rare lipid storage disease which is inherited as autosomal recessive trait. The disease is due to an abnormality of cholesterol metabolism, in which excess formation... -
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- A Case of cerebrotendinous Xanthomatosis Associated with Cerebral Infarction
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Joo IS, Cho PZ, Kim DI
- KMID: 2065855
- J Korean Neurol Assoc.
- 1988 Jun;6(1):91-96.
Cerebrotendinous xanthomatosis-is a very rare, automsomal recessive disorder which characterized by xanthomatous deposits in multiorgan system. The main clinical features include pyramidal, cerebellar and brain stem dysfunction, juvenile cataracts, dementia... -
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- A Case of Cerebrotendinous Xanthomatosis
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Lee WK, Yoon BJ
- KMID: 1949406
- J Korean Ophthalmol Soc.
- 1988 Aug;29(4):783-788.
Cerebrotendinous xanthomatosis(CTX) is a rare familial, autosomal disease which seems to be inherited as a Mendelian recessive. It was first described by van Bogaert et al, in 1937 and only... -
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- Cerebrotendinous Xanthomatosis with Low Signal on Gradient Echo Magnetic Resonance Imaging
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Kim MG, Bin CH, Park MS
- KMID: 2153172
- J Korean Neurol Assoc.
- 2016 Feb;34(1):83-85.
- doi: 10.17340/jkna.2016.1.19
No abstract available. -
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- A Case of Cerebrotendinous Xanthomatosis
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Park CI, Kim YC, Shin JC, Kim YW, Lim KB
- KMID: 2323089
- J Korean Acad Rehabil Med.
- 1998 Apr;22(2):460-464.
Cerebrotendinous Xanthomatosis is a rare inherited autosomal recessive disorder characterized by an increased plasma cholestanol level and the accumulation of sterol in tendon and nervous system. The primary biochemical abnormality... -
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- Two Siblings with Cerebrotendinous Xanthomatosis
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Park JY, Shin DH, Choi JS, Park MY
- KMID: 2388398
- Korean J Dermatol.
- 2013 Jun;51(6):450-454.
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report two CTX siblings that were presented with typical manifestations such as... -
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- A Case of Cerebrotendinous Xanthomatosis
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Jung SJ, Kim HT
- KMID: 1852243
- J Korean Neurol Assoc.
- 2000 Jan;18(1):94-97.
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid-storage disease with abnormal deposition of cholesterol and cholestanol in multiple tissues. The disease is caused by mutations in the sterol 27-hydroxylase... -
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