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单词 menkes disease
释义

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Menkes(') disease
1. attributive and in the genitive. Designating a genetic (X-linked recessive) disorder of copper transport that is characterized by retarded growth, progressive neurological degeneration, and hypopigmented kinky hair, and is generally fatal (if untreated) in infancy or early childhood; esp. in Menkes(') disease, Menkes syndrome. Also: of, relating to, or affected by this disorder.
ΚΠ
1967 Jrnl. Pediatrics 70 465/1 Menkes syndrome; peculiar hair and focal cerebral and cerebellar degeneration.
1976 Proc. National Acad. Sci. U.S.A. 73 604/2 The difference in copper concentration between Menkes and controls is characteristic for Menkes cells.
1986 Exper. Neurol. 91 640 The mouse mutant Mobr is an animal model of Menkes kinky hair syndrome with a similar defect in copper utilization.
1992 Human Genetics 88 668/1 The present finding supports the localization of the Menkes locus (MNK) to Xq13.
1993 Daily Tel. 2 Jan. 8/7 Menkes' disease, which affects only men, is due to a defective or missing gene.
2000 Biochemistry 39 6857 The cellular location of the Menkes ATPase, a key element in the control of intracellular copper.
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