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Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry.

作者信息

Moser H W, Moser A B, Kawamura N, Migeon B, O'Neill B P, Fenselau C, Kishimoto Y

出版信息

Johns Hopkins Med J. 1980 Dec;147(6):217-24.

PMID:7453002
Abstract
摘要

相似文献

1
Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry.肾上腺脑白质营养不良:表型、遗传学及生物化学研究
Johns Hopkins Med J. 1980 Dec;147(6):217-24.
2
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.
3
[A case of adrenoleukodystrophy and a carrier with decreased activity of beta-galactosidase].
Rinsho Shinkeigaku. 1985 May;25(5):601-5.
4
[Adrenomyeloneuropathy. Report of two siblings and female heterozygote with spastic paraparesis].[肾上腺脑白质营养不良性脊髓病。两例同胞病例及一例患有痉挛性截瘫的女性杂合子的报告]
Rinsho Shinkeigaku. 1982 Nov;22(11):980-5.
5
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.
6
Adrenoleukodystrophy. Failure of immunosuppression to prevent neurological progression.
Arch Neurol. 1981 Jan;38(1):48-9. doi: 10.1001/archneur.1981.00510010074014.
7
Case 5-1982: Adrenoleukodystrophy.
N Engl J Med. 1982 Jul 15;307(3):192-3.
8
Adrenoleukodystrophy. Validity of CT in the diagnosis.
Ital J Neurol Sci. 1982 Mar;3(1):71-4. doi: 10.1007/BF02043350.
9
Adrenoleukodystrophy: a fatal disorder with new opportunities for prevention and treatment.
J Neurosurg Nurs. 1985 Feb;17(1):53-60.
10
Adrenoleukodystrophy (Siemerling-creutzfeldt disease): Heterozygote with two clonal fibroblast populations.肾上腺脑白质营养不良(西默林 - 克罗伊茨费尔特病):具有两个克隆成纤维细胞群体的杂合子。
Clin Genet. 1977 Feb;11(2):114-8. doi: 10.1111/j.1399-0004.1977.tb01287.x.

引用本文的文献

1
Associative and predictive biomarkers of dementia in HIV-1-infected patients.HIV-1感染患者痴呆的关联生物标志物和预测生物标志物。
Neurology. 2007 May 1;68(18):1481-7. doi: 10.1212/01.wnl.0000260610.79853.47.
2
Adrenoleukodystrophy--its diverse CT appearances and an evolutive or phenotypic variant: the leukodystrophy without adrenal insufficiency.肾上腺脑白质营养不良——其多样的CT表现及一种演变型或表型变异:无肾上腺功能不全的脑白质营养不良。
Neuroradiology. 1982;24(1):33-42. doi: 10.1007/BF00344581.
3
Neonatal adrenoleukodystrophy: clinical, pathologic, and biochemical delineation of a syndrome affecting both males and females.
新生儿肾上腺脑白质营养不良:一种影响男性和女性的综合征的临床、病理及生化特征描述
Am J Pathol. 1982 Jul;108(1):100-11.
4
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.肾上腺脑白质营养不良:X连锁、失活以及杂合细胞中有利于突变等位基因的选择的证据。
Proc Natl Acad Sci U S A. 1981 Aug;78(8):5066-70. doi: 10.1073/pnas.78.8.5066.
5
Determination of C20-C30 fatty acids by reversed-phase chromatographic techniques: an efficient method to quantitate minor fatty acids in serum of patients with adrenoleukodystrophy.
Neurochem Res. 1984 Dec;9(12):1719-27. doi: 10.1007/BF00968082.
6
Chronic encephalomyelitis presenting as chronic progressive myelopathy.
J Neurol Neurosurg Psychiatry. 1984 Nov;47(11):1192-6. doi: 10.1136/jnnp.47.11.1192.
7
The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood.CT在儿童不同先天性神经退行性疾病诊断及预后评估中的价值。
J Neurol. 1984;231(2):57-70. doi: 10.1007/BF00313718.
8
Adrenomyeloneuropathy. A report on two families.肾上腺脑白质营养不良症。两个家族的报告。
J Neurol. 1982;226(4):221-32. doi: 10.1007/BF00313395.
9
Adrenoleukodystrophy without adrenal insufficiency and its magnetic resonance imaging.无肾上腺功能不全的肾上腺脑白质营养不良及其磁共振成像
J Neurol. 1985;232(5):265-70. doi: 10.1007/BF00313862.
10
Adrenomyeloneuropathy: report of a family and electron microscopical findings in peripheral nerve.肾上腺脑白质营养不良性神经病:一家系报告及周围神经的电镜检查结果
J Neurol. 1985;232(2):73-8. doi: 10.1007/BF00313904.