A family with adrenoleucodystrophy.
作者信息
Singh R P, Deshpande S, Marwaha R K, Garg K
出版信息
Indian J Pediatr. 1989 Sep-Oct;56(5):666-70. doi: 10.1007/BF02722392.
PMID:2632441
Abstract
摘要
相似文献
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A family with adrenoleucodystrophy.
Indian J Pediatr. 1989 Sep-Oct;56(5):666-70. doi: 10.1007/BF02722392.
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[Adrenoleukodystrophy and adrenomyeloneuropathy in 2 brothers].[两兄弟患肾上腺脑白质营养不良和肾上腺脊髓神经病]
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Detection of adrenoleukodystrophy by increased C26:0 fatty acid levels in leukocytes.
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Adrenoleukodystrophy: manifestations of a protean disorder: report of a recently identified kindred.肾上腺脑白质营养不良：一种多变疾病的表现：一个最近发现的家族的报告
N Z Med J. 1989 May 10;102(867):220-2.
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[Adrenoleukodystrophy in a pair of siblings].[一对兄弟姐妹中的肾上腺脑白质营养不良]
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Demonstration of cerebellar involvement in adrenoleucodystrophy by CT.通过CT显示肾上腺脑白质营养不良患者的小脑受累情况。
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本文引用的文献
1
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.肾上腺脑白质营养不良：培养的皮肤成纤维细胞中C26脂肪酸升高。
Ann Neurol. 1980 Jun;7(6):542-9. doi: 10.1002/ana.410070607.
2
Adrenoleukodystrophy.
Indian Pediatr. 1981 Feb;18(2):127-30.
3
Abnormality of long-chain fatty acids in erythrocyte membrane sphingomyelin from patients with adrenoleukodystrophy.肾上腺脑白质营养不良患者红细胞膜鞘磷脂中长链脂肪酸的异常。
J Neurochem. 1981 Mar;36(3):1046-9. doi: 10.1111/j.1471-4159.1981.tb01698.x.
4
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.肾上腺脑白质营养不良：血浆中饱和极长链脂肪酸含量增加。
Neurology. 1981 Oct;31(10):1241-9. doi: 10.1212/wnl.31.10.1241.
5
The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland.肾上腺脑白质营养不良的产前诊断。培养的羊膜细胞和胎儿肾上腺中二十六烷酸水平升高的证明。
Pediatr Res. 1982 Mar;16(3):172-5. doi: 10.1203/00006450-198203000-00002.
6
Identification of female carriers of adrenoleukodystrophy.肾上腺脑白质营养不良女性携带者的鉴定
J Pediatr. 1983 Jul;103(1):54-9. doi: 10.1016/s0022-3476(83)80775-6.
7
Evoked response studies in patients with adrenoleukodystrophy and heterozygous relatives.
Arch Neurol. 1983 Jun;40(6):356-9. doi: 10.1001/archneur.1983.04050060056010.
8
Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.肾上腺脑白质营养不良：303例病例调查：生物化学、诊断与治疗
Ann Neurol. 1984 Dec;16(6):628-41. doi: 10.1002/ana.410160603.
9
Bone marrow transplant in adrenoleukodystrophy.肾上腺脑白质营养不良的骨髓移植
Neurology. 1984 Nov;34(11):1410-7. doi: 10.1212/wnl.34.11.1410.
10
Detection of adrenoleucodystrophy carriers by means of evoked potentials.
Lancet. 1982 Oct 16;2(8303):852-3. doi: 10.1016/s0140-6736(82)90813-3.
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