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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/deacc4678ae7/IJD-57-407-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/23a13cd412c4/IJD-57-407-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/50afde55dfc3/IJD-57-407-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/1fc8701bc43f/IJD-57-407-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/4639abf00e62/IJD-57-407-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/99e15d3c0b99/IJD-57-407-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/deacc4678ae7/IJD-57-407-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/23a13cd412c4/IJD-57-407-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/50afde55dfc3/IJD-57-407-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/1fc8701bc43f/IJD-57-407-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/4639abf00e62/IJD-57-407-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/99e15d3c0b99/IJD-57-407-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0439/3482811/deacc4678ae7/IJD-57-407-g006.jpg

相似文献

1
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.
2
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.
3
[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.
4
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.
5
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.
6
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.
7
Menkes' kinky hair disease.门克斯卷发综合征
Neuroradiology. 1977 May 31;13(3):159-63. doi: 10.1007/BF00626279.
8
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.
9
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.
10
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.

引用本文的文献

1
Copper homeostasis and neurodegenerative diseases.铜稳态与神经退行性疾病
Neural Regen Res. 2025 Nov 1;20(11):3124-3143. doi: 10.4103/NRR.NRR-D-24-00642. Epub 2024 Nov 13.
2
Educational Case: Osteogenesis imperfecta.教学案例：成骨不全症。
Acad Pathol. 2022 May 12;9(1):100025. doi: 10.1016/j.acpath.2022.100025. eCollection 2022.
3
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。

本文引用的文献

1
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.
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
Infantile spasms and Menkes disease.
BMJ Case Rep. 2022 Apr 7;15(4):e247937. doi: 10.1136/bcr-2021-247937.
4
Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.毛发显微镜检查：儿童系统性疾病诊断的便捷辅助手段。
Appl Microsc. 2021 Nov 29;51(1):18. doi: 10.1186/s42649-021-00067-6.
5
Bioactive Compounds for Skin Health: A Review.生物活性化合物与皮肤健康：综述
Nutrients. 2021 Jan 12;13(1):203. doi: 10.3390/nu13010203.
6
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。
J Pediatr Neurosci. 2014 Jan;9(1):11-6. doi: 10.4103/1817-1745.131471.
婴儿痉挛症与门克斯病。
Epileptic Disord. 2000 Dec;2(4):227-30.
4
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.
5
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.
6
Kinky hair disease.卷发疾病
Pediatrics. 1972 Aug;50(2):181-3.
7
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.
8
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.
9
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.
10
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.