门克斯卷发综合征 - Suppr

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超能文献

Menkes kinky hair disease.

作者信息

Choudhary Sanjiv V, Gadegone Rutuja W, Koley Sankha

机构信息

Department of Dermatology, Jawaharlal Nehru Medical College, Sawangi, Wardha, India.

出版信息

Indian J Dermatol. 2012 Sep;57(5):407-9. doi: 10.4103/0019-5154.100503.

DOI:10.4103/0019-5154.100503

PMID:23112368

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3482811/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/23a13cd412c4/IJD-57-407-g001.jpg

相似文献

Menkes kinky hair disease.门克斯卷发综合征

Indian J Dermatol. 2012 Sep;57(5):407-9. doi: 10.4103/0019-5154.100503.

Menkes kinky hair syndrome: a case report.门克斯卷发综合征：一例报告。

Dermatol Online J. 2012 Nov 15;18(11):4.

[A case of Menkes' kinky hair disease with a renal calculus and diverticula of the bladder].[一例伴有肾结石和膀胱憩室的门克斯卷发综合征病例]

Nihon Hinyokika Gakkai Zasshi. 1991 Jun;82(6):994-7. doi: 10.5980/jpnjurol1989.82.994.

An autopsy case of Menkes kinky hair disease.一例门克斯卷发综合征尸检病例。

Acta Pathol Jpn. 1978 Jul;28(4):585-94. doi: 10.1111/j.1440-1827.1978.tb00897.x.

Histochemical studies of fibroblasts from patients with Menkes kinky hair disease and Wilson's disease.

Histochem J. 1982 Sep;14(5):781-9. doi: 10.1007/BF01033627.

Polyamine metabolism in Menkes kinky hair disease.

Clin Chim Acta. 1980 May 9;103(3):375-80. doi: 10.1016/0009-8981(80)90157-6.

Menkes' kinky hair disease.门克斯卷发综合征

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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.

Menkes kinky hair disease: characteristic MR angiographic findings.门克斯卷发综合征：磁共振血管造影的特征性表现

AJNR Am J Neuroradiol. 1993 Sep-Oct;14(5):1160-3.

Menkes' kinky hair disease. I. Comparison of classical and unusual clinical and biochemical features in two patients.门克斯卷发综合征。I. 两名患者典型与非典型临床及生化特征的比较

Brain Dev. 1982;4(2):105-14.

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Copper-histidine therapy in an infant with novel splice-site variant in the gene of Menkes disease: the first experience in South East Asia and literature review.铜-组氨酸治疗 Menkes 病基因新型剪接位点变异婴儿：东南亚的首次经验和文献复习。

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Menkes disease - An important cause of early onset refractory seizures.门克斯病——早发性难治性癫痫的一个重要病因。

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本文引用的文献

Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre.头皮毛发样本的光学显微镜检查辅助诊断儿科疾病：来自单一中心的300多例病例回顾性研究

J Clin Pathol. 2005 Dec;58(12):1294-8. doi: 10.1136/jcp.2005.027581.

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.

Infantile spasms and Menkes disease.婴儿痉挛症与门克斯病。

Epileptic Disord. 2000 Dec;2(4):227-30.

Early neuroradiologic evidence of degeneration in Menkes' disease.门克斯病早期神经放射学退变证据。

Pediatr Neurol. 1997 Oct;17(3):255-8. doi: 10.1016/s0887-8994(97)00092-1.

Menkes disease: recent advances and new aspects.门克斯病：最新进展与新视角

J Med Genet. 1997 Apr;34(4):265-74. doi: 10.1136/jmg.34.4.265.

Kinky hair disease.卷发疾病

Pediatrics. 1972 Aug;50(2):181-3.

Menkes' kinky hair disease: further definition of the defect in copper transport.门克斯卷发疾病：铜转运缺陷的进一步界定

Science. 1973 Mar 16;179(4078):1140-2. doi: 10.1126/science.179.4078.1140.

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.

Structural abnormalities of the hair shaft.毛干的结构异常。

J Am Acad Dermatol. 1987 Jan;16(1 Pt 1):1-25. doi: 10.1016/s0190-9622(87)70001-2.

Serial MR studies in Menkes disease.门克斯病的系列磁共振成像研究。

J Comput Assist Tomogr. 1989 Jan-Feb;13(1):113-5. doi: 10.1097/00004728-198901000-00024.

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