两名临床非典型门克斯病患者的64铜摄取和保留值较高。
High 64Cu uptake and retention values in two clinically atypical Menkes patients.
作者信息
Tønnesen T, Garrett C, Gerdes A M
机构信息
John F Kennedy Institute, Glostrup, Denmark.
出版信息
J Med Genet. 1991 Sep;28(9):615-8. doi: 10.1136/jmg.28.9.615.
Abstract
We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen for other families with classical Menkes disease.
摘要
我们对两名先前发表的非典型门克斯病患者进行了⁶⁴Cu摄取和滞留研究。这两项分析的结果在经典门克斯病患者所见范围内均显著增加。对女性亲属进行的⁶⁴Cu摄取分析显示出与其他经典门克斯病家族相同的摄取模式。
相似文献
1
High 64Cu uptake and retention values in two clinically atypical Menkes patients.
J Med Genet. 1991 Sep;28(9):615-8. doi: 10.1136/jmg.28.9.615.
2
3
[Mild form of Menkes syndrome].
Rev Invest Clin. 1984 Apr-Jun;36(2):151-4.
4
Postmortem Menkes diagnosis from carrier testing of female relatives.
Clin Genet. 1987 Dec;32(6):393-7. doi: 10.1111/j.1399-0004.1987.tb03156.x.
5
[Clinical aspects of Menkes syndrome].
Monatsschr Kinderheilkd. 1987 Dec;135(12):827-31.
6
[Menkes disease. (A family case report)].
Ann Pediatr (Paris). 1978 Sep;25(7):333-40.
7
Clinical expression of Menkes syndrome in females.
Clin Genet. 1990 Dec;38(6):452-9. doi: 10.1111/j.1399-0004.1990.tb03612.x.
8
Oxidative abnormalities in Menkes disease.
J Inherit Metab Dis. 2000 Jun;23(4):349-51. doi: 10.1023/a:1005675012708.
9
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.
J Inherit Metab Dis. 1994;17(3):267-70. doi: 10.1007/BF00711804.
10
[Menkes syndrome: review of the pathogenesis apropos of a clinico-pathological case].
Arq Neuropsiquiatr. 1984 Sep;42(3):262-73. doi: 10.1590/s0004-282x1984000300010.
引用本文的文献
1
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.
Neurobiol Dis. 2015 Sep;81:154-61. doi: 10.1016/j.nbd.2014.12.024. Epub 2015 Jan 10.
2
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.
Am J Hum Genet. 2006 Aug;79(2):214-29. doi: 10.1086/505407. Epub 2006 Jun 5.
3
Recent developments in Menkes disease.
J Inherit Metab Dis. 1993;16(4):791-9. doi: 10.1007/BF00711911.
本文引用的文献
1
A mild form of Menkes steely hair syndrome.
J Pediatr. 1981 Jan;98(1):97-9. doi: 10.1016/s0022-3476(81)80551-3.
2
Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants.
Biochem Genet. 1980 Feb;18(1-2):117-31. doi: 10.1007/BF00504364.
3
Urologic abnormalities in Menkes' syndrome.
J Urol. 1981 Aug;126(2):262-4. doi: 10.1016/s0022-5347(17)54469-9.
4
An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease.
Neurology. 1981 Jul;31(7):852-9. doi: 10.1212/wnl.31.7.852.
5
CT manifestations of Menkes' kinky hair syndrome (trichopoliodystrophy).
J Can Assoc Radiol. 1984 Dec;35(4):406-8.
6
Detection of metabolic carcinogen intermediates in urine of carcinogen-fed rats by means of bacterial mutagenesis.
Nature. 1974 Jun 28;249(460):850-2. doi: 10.1038/249850a0.
7
Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease.
Clin Genet. 1986 Mar;29(3):258-61. doi: 10.1111/j.1399-0004.1986.tb00821.x.
8
Variability in clinical expression of Menkes syndrome.
Eur J Pediatr. 1988 Nov;148(2):132-5. doi: 10.1007/BF00445920.
9
Atypical Menkes steely hair disease.
Am J Med Genet. 1988 Jul;30(3):853-8. doi: 10.1002/ajmg.1320300324.
10
Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.
J Inherit Metab Dis. 1989;12 Suppl 1:207-14. doi: 10.1007/BF01799296.
Zotero 插件