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Menkes' disease--a new leucodystrophy (?). A clinical and neuropathological review together with a new case.

作者信息

Vagn-Hansen L, Reske-Nielsen E, Lou H C

出版信息

Acta Neuropathol. 1973 Jul 11;25(2):103-19. doi: 10.1007/BF00687555.

DOI:10.1007/BF00687555
PMID:4727735
Abstract
摘要

相似文献

1
Menkes' disease--a new leucodystrophy (?). A clinical and neuropathological review together with a new case.门克斯病——一种新的脑白质营养不良(?)。附1例新病例的临床与神经病理学综述
Acta Neuropathol. 1973 Jul 11;25(2):103-19. doi: 10.1007/BF00687555.
2
Menkes' disease: is the etiology a copper transport defect?门克斯病:病因是铜转运缺陷吗?
Acta Paediatr Scand. 1974 Mar;63(2):292-6. doi: 10.1111/j.1651-2227.1974.tb04800.x.
3
Cerebral angiography in Menkes' Kinky Hair Syndrome. Report of a case.门克斯卷发综合征的脑血管造影。病例报告。
Australas Radiol. 1975 Mar;19(1):5-7. doi: 10.1111/j.1440-1673.1975.tb01911.x.
4
[Menkes' disease. Clinical study of a personal case].
Pediatrie. 1974 Sep;29(6):561-72.
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Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease.用于门克斯病产前诊断的培养细胞铜掺入研究。
Lancet. 1976 May 29;1(7970):1156-8. doi: 10.1016/s0140-6736(76)91543-9.
6
Menkes' kinky-hair (steely-hair) syndrome.门克斯卷发(钢发)综合征
Dev Med Child Neurol. 1974 Dec;16(6):827-9. doi: 10.1111/j.1469-8749.1974.tb03410.x.
7
Menkes' kinky-hair syndrome.门克斯卷发综合征
Lancet. 1972 May 20;1(7760):1100-2. doi: 10.1016/s0140-6736(72)91433-x.
8
Is Menkes' syndrome a heritable disorder of connective tissue?门克斯综合征是一种遗传性结缔组织疾病吗?
Lancet. 1971 Nov 13;2(7733):1089. doi: 10.1016/s0140-6736(71)90403-x.
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Neuropathologic aspects in Menkes' Kinky hair disease (trichopoliodystrophy). Menkes' Kinky hair disease.门克斯卷发疾病(毛发灰质营养不良症)的神经病理学方面。门克斯卷发疾病。
Neuropadiatrie. 1974 Aug;5(3):329-39. doi: 10.1055/s-0028-1091712.
10
A large head in a 2-year-old boy.一名两岁男童头部偏大。
J Pediatr. 1977 Sep;91(3):499-502. doi: 10.1016/s0022-3476(77)81335-8.

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Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration.铜缺乏与儿童神经退行性变遗传模型中的适应性蛋白质合成
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Dendrite injury triggers neuroprotection in Drosophila models of neurodegenerative disease.树突损伤触发神经退行性疾病果蝇模型中的神经保护作用。

本文引用的文献

1
Early familial cerebellar degeneration; report of 3 cases in one family.早发性家族性小脑变性:一家系3例报告
J Nerv Ment Dis. 1950 May;111(5):398-407.
2
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.一种伴性隐性疾病,伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。
Pediatrics. 1962 May;29:764-79.
3
SOME CHEMICAL INFLUENCES ON HAIR GROWTH AND PIGMENTATION.一些对头发生长和色素沉着的化学影响。
Sci Rep. 2024 Oct 21;14(1):24766. doi: 10.1038/s41598-024-74670-4.
4
Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration.铜缺乏与儿童神经退行性变遗传模型中的适应性蛋白质合成
bioRxiv. 2024 Nov 18:2024.09.09.612106. doi: 10.1101/2024.09.09.612106.
5
Trafficking mechanisms of P-type ATPase copper transporters.P 型 ATP 酶铜转运蛋白的转运机制。
Curr Opin Cell Biol. 2019 Aug;59:24-33. doi: 10.1016/j.ceb.2019.02.009. Epub 2019 Mar 29.
6
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.门克斯病中神经退行性变和神经发育缺陷的分子基础。
Neurobiol Dis. 2015 Sep;81:154-61. doi: 10.1016/j.nbd.2014.12.024. Epub 2015 Jan 10.
7
Myelin, copper, and the cuprizone model of schizophrenia.髓磷脂、铜与精神分裂症的双环己酮草酰二腙模型
Front Biosci (Schol Ed). 2011 Jan 1;3(1):23-40. doi: 10.2741/s129.
8
Cerebellar superoxide dismutase expression in Menkes' kinky hair disease: an immunohistochemical investigation.门克斯卷发综合征中小脑超氧化物歧化酶的表达:一项免疫组织化学研究
Acta Neuropathol. 1995;90(2):198-202. doi: 10.1007/BF00294321.
9
An ultrastructural study on the cerebellum of the brindled mouse.花斑小鼠小脑的超微结构研究。
Acta Neuropathol. 1980;52(1):41-50. doi: 10.1007/BF00687227.
10
Brindled mottled mouse: morphological changes of brain and visceral organs in hemizygous males following copper supplementation.花斑斑驳小鼠:补充铜后半合子雄性小鼠脑和内脏器官的形态学变化
Acta Neuropathol. 1981;55(4):251-5. doi: 10.1007/BF00690986.
Br J Dermatol. 1965 Mar;77:115-29. doi: 10.1111/j.1365-2133.1965.tb14614.x.
4
SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM IN INFANCY.婴儿期中枢神经系统海绵状变性
Neurology. 1964 Nov;14:981-1001. doi: 10.1212/wnl.14.11.981.
5
NEUROAXONAL DYSTROPHY IN MUCOVISCIDOSIS.黏多糖贮积症中的神经轴索性营养不良
J Neuropathol Exp Neurol. 1964 Oct;23:567-83. doi: 10.1097/00005072-196410000-00001.
6
Infantile neuroaxonal dystrophy.婴儿神经轴索性营养不良
J Neuropathol Exp Neurol. 1963 Apr;22:175-236. doi: 10.1097/00005072-196304000-00001.
7
Embryology of the human nail.人类指甲的胚胎学
Arch Dermatol. 1963 Jan;87:37-53. doi: 10.1001/archderm.1963.01590130043010.
8
Observations on growth of fingernails in health and disease.关于健康与疾病状态下指甲生长的观察
Pediatrics. 1959 Aug;24(2):225-33.
9
Microscopic studies of fetal and mature nail and surrounding soft tissue.
AMA Arch Derm Syphilol. 1954 Dec;70(6):733-47.
10
[Histology and anatomy of the hair follicle in the course of the hair cycle].[毛囊在毛发周期中的组织学与解剖学]
Arch Klin Exp Dermatol. 1966;227(1):390-409. doi: 10.1007/BF00502866.