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Cerebrotendinous xanthomatosis.

作者信息

Kearns W P, Wood W S

出版信息

Arch Ophthalmol. 1976 Jan;94(1):148-50. doi: 10.1001/archopht.1976.03910030080018.

DOI:10.1001/archopht.1976.03910030080018
PMID:1247403
Abstract

A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.

摘要

相似文献

1
Cerebrotendinous xanthomatosis.
Arch Ophthalmol. 1976 Jan;94(1):148-50. doi: 10.1001/archopht.1976.03910030080018.
2
Cerebrotendinous xanthomatosis: clinical and laboratory study of 2 cases.
Acta Neurol Scand. 1983 May;67(5):305-11. doi: 10.1111/j.1600-0404.1983.tb04580.x.
3
Cerebrotendinous xanthomatosis.脑腱黄瘤病
Br Med J. 1972 Feb 5;1(5796):353-4. doi: 10.1136/bmj.1.5796.353.
4
Type IIa hyperlipoproteinemia masquerading as cerebrotendinous xanthomatosis.
J Neurol Sci. 1989 Dec;94(1-3):101-5. doi: 10.1016/0022-510x(89)90220-7.
5
Cerebrotendinous xanthomatosis in two sisters: case reports and MR imaging.两姐妹患脑腱性黄瘤病:病例报告及磁共振成像
Clin Radiol. 1995 Feb;50(2):117-9. doi: 10.1016/s0009-9260(05)82994-0.
6
[Cerebrotendinous xanthomatosis--a case of brain MRI abnormality and osteoporosis].[脑腱黄瘤病——1例脑磁共振成像异常与骨质疏松病例]
Rinsho Shinkeigaku. 1992 May;32(5):488-93.
7
Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis.鹅去氧胆酸和普伐他汀联合治疗可改善脑腱性黄瘤病患者的血浆胆甾烷醇水平,并使肌腱黄瘤明显消退。
Metabolism. 1991 Jul;40(7):741-6. doi: 10.1016/0026-0495(91)90094-d.
8
Cerebrotendinous xanthomatosis with cholestanolaemia--involvement of five individuals in a Malay family.
Med J Malaysia. 1990 Dec;45(4):275-80.
9
A case of cerebrotendinous xanthomatosis: effects of ursodeoxycholic acid administration on serum bile acids and cholestanol.
Jpn J Med. 1982 Jul;21(3):210-5. doi: 10.2169/internalmedicine1962.21.210.
10
Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands.脑腱黄瘤病(CTX):荷兰患者群体的临床调查
Clin Neurol Neurosurg. 1987;89(3):169-75. doi: 10.1016/s0303-8467(87)80050-1.

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Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata.以双侧跟腱黄色瘤为表现的脑腱性黄色瘤病。
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