门克斯综合征是一种铜储存障碍疾病吗？ - Suppr

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Is Menkes syndrome a copper storage disorder?

作者信息

Horn N, Heydorn K, Damsgaard E, Tygstrup I, Vestermark S

出版信息

Clin Genet. 1978 Sep;14(3):186-7. doi: 10.1111/j.1399-0004.1978.tb02128.x.

DOI:10.1111/j.1399-0004.1978.tb02128.x

PMID:699357

Abstract

摘要

相似文献

Is Menkes syndrome a copper storage disorder?门克斯综合征是一种铜储存障碍疾病吗？

Clin Genet. 1978 Sep;14(3):186-7. doi: 10.1111/j.1399-0004.1978.tb02128.x.

Abnormal copper metabolism in menkes cultured fibroblasts.

Eur J Pediatr. 1980 Sep;134(3):205-10. doi: 10.1007/BF00441474.

Tissue copper concentrations of patients with Menke's kinky hair disease.患有门克斯卷发综合征患者的组织铜浓度。

Am J Dis Child. 1981 Apr;135(4):375-6. doi: 10.1001/archpedi.1981.02130280065022.

Copper in Menkes Kinky Hair Syndrome.

Indian Pediatr. 1982 Jan;19(1):104-5.

Copper metabolism in Menkes disease.

Pediatr Res. 1979 Mar;13(3):206. doi: 10.1203/00006450-197903000-00016.

Distribution of ingested and injected radiocopper in two patients with Menkes' kinky hair disease.两名患有门克斯卷发综合征患者摄入和注射放射性铜后的分布情况。

Pediatr Res. 1979 Nov;13(11):1280-4. doi: 10.1203/00006450-197911000-00015.

Autoradiographic demonstration of the copper-accumulating tissues in mice with a defect homologous to Menkes' Kinky Hair disease.与门克斯卷发疾病同源缺陷的小鼠体内铜蓄积组织的放射自显影证明

Pathol Res Pract. 1983 Aug;178(1):48-50. doi: 10.1016/S0344-0338(83)80084-3.

Role of metallothioneins in copper transport in patients with Menkes syndrome.金属硫蛋白在门克斯综合征患者铜转运中的作用。

Ann Clin Lab Sci. 1978 Jul-Aug;8(4):302-9.

On the pathogenesis and clinical expression of Menkes' kinky hair syndrome.

Nutr Rev. 1981 Nov;39(11):391-3. doi: 10.1111/j.1753-4887.1981.tb06723.x.

[Menkès disease. Study of copper-dependent enzymes].[门克斯病。铜依赖性酶的研究]

Pediatrie. 1977 Jul-Aug;32(5):447-56.

引用本文的文献

Decreased Expression of the Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease.基因表达下调和膜 CTR1 蛋白的细胞质重定位：Menkes 病小鼠模型中铜肾毒性的一种强大保护机制。

Int J Mol Sci. 2022 Sep 28;23(19):11441. doi: 10.3390/ijms231911441.

In vitro assessment of the toxicity of metal compounds : IV. Disposition of metals in cells: Interactions with membranes, glutathione, metallothionein, and DNA.金属化合物的体外毒性评估：IV. 金属在细胞内的分布：与膜、谷胱甘肽、金属硫蛋白和 DNA 的相互作用。

Biol Trace Elem Res. 1984 Apr;6(2):139-58. doi: 10.1007/BF02916931.

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.

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.

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.

The effect of copper supplementation on the concentration of copper in the brain of the brindled mouse.补充铜对花斑小鼠大脑中铜浓度的影响。

Biochem J. 1982 Sep 1;205(3):485-7. doi: 10.1042/bj2050485.

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.

Menkes' X-linked disease: prenatal diagnosis and carrier detection.

J Inherit Metab Dis. 1983;6 Suppl 1:59-62. doi: 10.1007/BF01811325.

Menkes disease.

Indian J Pediatr. 1988 May-Jun;55(3):445-7. doi: 10.1007/BF02810375.

Roles of copper in bone maintenance and healing.铜在骨骼维持与愈合中的作用。

Biol Trace Elem Res. 1988 Dec;18:39-48. doi: 10.1007/BF02917487.

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