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Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease.

作者信息

Keydorn K, Damsgaard E, Horn N, Mikkelsen M, Tygstrup I, Vestemark S, Weber J

出版信息

Humangenetik. 1975 Sep 10;29(2):171-5. doi: 10.1007/BF00430357.

DOI:10.1007/BF00430357
PMID:1176140
Abstract

The distribution of copper among the organs of an aborted, male foetus, expected to develop Menkes' syndrome, was entirely different from the distribution in 4 normal foetuses. Copper concentrations determined by neutron activation analysis showed a considerably reduced content in the liver, but increased concentrations in the other organs analysed; total foetal copper was normal.

摘要

相似文献

1
Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease.
Humangenetik. 1975 Sep 10;29(2):171-5. doi: 10.1007/BF00430357.
2
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.
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.
4
[Menkes' disease. Study of copper metabolism in a personal case].[门克斯病。一例个人病例的铜代谢研究]
Pediatrie. 1974 Sep;29(6):573-94.
5
Copper deficiency in the developing rat brain: a possible model for Menkes' steely-hair disease.
J Neurochem. 1974 Jul;23(1):91-8. doi: 10.1111/j.1471-4159.1974.tb06920.x.
6
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.
7
Brain-copper concentration in Menkes' disease.门克斯病患者大脑中的铜浓度。
Lancet. 1973 Mar 17;1(7803):613. doi: 10.1016/s0140-6736(73)90766-6.
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
Study of copper metabolism in kinky hair disease (Menkes' disease) and in hepatolenticular degeneration (Wilson's disease) utilizing 67Cu and radioactivity counting in the total body and various tissues.利用67铜及全身和各种组织的放射性计数对卷发疾病(门克斯病)和肝豆状核变性(威尔逊病)中铜代谢的研究。
Trans Am Neurol Assoc. 1974;99:106-9.
10
Letter: Copper and steely hair.
Lancet. 1975 May 31;1(7918):1236. doi: 10.1016/s0140-6736(75)92214-x.

引用本文的文献

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.
2
Electron microscopic study of retinas of macular mice.黄斑小鼠视网膜的电子显微镜研究。
Graefes Arch Clin Exp Ophthalmol. 1996 Aug;234 Suppl 1:S101-5. doi: 10.1007/BF02343056.
3
Abnormal copper metabolism in menkes cultured fibroblasts.
Eur J Pediatr. 1980 Sep;134(3):205-10. doi: 10.1007/BF00441474.

本文引用的文献

1
Simultaneous determination of arsenic, manganese, and selenium in biological materials by neutron-activation analysis.中子活化分析同时测定生物材料中的砷、锰和硒。
Talanta. 1973 Jan;20(1):1-11.
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
[On the copper content of fetal organs].[关于胎儿器官的铜含量]
4
Copper metabolism in mottled mouse mutants. Defective placental transfer of 64Cu to foetal brindled (Mobr) mice.斑驳小鼠突变体中的铜代谢。64Cu向胎儿花斑(Mobr)小鼠的胎盘转运缺陷。
Biochem J. 1980 Feb 15;186(2):629-31. doi: 10.1042/bj1860629.
5
Nature of copper and zinc compounds in tissues from a patient with Menkes kinky hair syndrome.患有门克斯卷发综合征患者组织中铜和锌化合物的性质。
Eur J Pediatr. 1981 Sep;137(1):17-21. doi: 10.1007/BF00441163.
6
Menkes X linked disease: two clonal cell populations in heterozygotes.门克斯X连锁病:杂合子中的两个克隆细胞群体。
J Med Genet. 1980 Aug;17(4):262-6. doi: 10.1136/jmg.17.4.262.
7
Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.门克斯X连锁病:未克隆的成纤维细胞培养物中的杂合子表型
J Med Genet. 1980 Aug;17(4):257-61. doi: 10.1136/jmg.17.4.257.
8
The failure of parenteral copper therapy in Menkes Kinky Hair syndrome.胃肠外铜疗法在门克斯卷发综合征中的失效情况。
Eur J Pediatr. 1984 Jun;142(2):98-102. doi: 10.1007/BF00445587.
9
Menkes' X-linked disease: prenatal diagnosis and carrier detection.
J Inherit Metab Dis. 1983;6 Suppl 1:59-62. doi: 10.1007/BF01811325.
10
Of mice and men, metals and mutations.关于小鼠与人、金属与突变。
J Med Genet. 1986 Apr;23(2):99-106. doi: 10.1136/jmg.23.2.99.
Kiserl Orvostud. 1963 Jun;15:230-8.
4
Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.门克斯卷发综合征。一种遗传性铜吸收缺陷病,具有广泛影响。
Pediatrics. 1972 Aug;50(2):188-201.
5
Nutrient stores in human foetal livers.
Br J Nutr. 1972 Mar;27(2):313-7. doi: 10.1079/bjn19720096.
6
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.
7
Kinky hair syndrome.卷发综合征
Acta Paediatr Scand. 1974 Mar;63(2):289-92. doi: 10.1111/j.1651-2227.1974.tb04799.x.
8
Serum copper in normal and complicated pregnancies compared with urinary oestrogens.
Ann Chir Gynaecol Fenn. 1973;62(3):117-20.
9
Menkes' steely-hair (kinky-hair) disease.门克斯钢发(卷发)病
Lancet. 1973 Apr 21;1(7808):891. doi: 10.1016/s0140-6736(73)91468-2.
10
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.