Menkes disease: New ocular and electroretinographic findings

Ophthalmology

Volumn 105, Issue 6, 1998, Pages 1076-1078

  Ferreira, Rosane C ^a,b   Heckenlively, John R ^c   Menkes, John H ^c   Bronwyn Bateman, J ^b,d  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF COLORADO   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; ELECTRORETINOGRAPHY; EYE DISEASE; EYELASH; HUMAN; INFANT; IRIS DISEASE; MALE; MENKES SYNDROME; PRIORITY JOURNAL; RETINA DEGENERATION;

EID: 0031807064     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(98)96010-9     Document Type: Article

References (12)

1. Menkes JH, Alter M, Steigleder GK, et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962;29:764-79.
2. Billings DM, Degnan M. Kinky hair syndrome. A new case and a review. Am J Dis Child 1971;121:447-9.
3. Dierick HA, Ambrosini L, Spencer J, et al. Molecular structure of the Menkes disease gene (ATP7A). Genomics 1995;28:462-9.
4. Vulpe CD, Packman S. Cellular copper transport. Annu Rev Nutr 1995;15:293-322.
5. Watanabe I, Watanabe Y, Motomura E, et al. Menkes' kinky hair disease: clinical and experimental study. Doc Ophthalmol 1985;60:173-81.
6. Singh S, Bresnan MJ. Menkes kinky-hair syndrome (trichopoliodystrophy). Low copper levels in the blood, hair, and urine. Am J Dis Child 1973;125:572-8.
7. Tumer Z, Horn N, Tonnesen T, et al. Early copper-histidine treatment for Menkes disease. Nat Genet 1996;12:11-3.
8. Levy NS, Dawson WW, Rhodes BJ, Garnica H. Ocular abnormalities in Menkes' kinky-hair syndrome. Am J Ophthalmol 1974;77:319-25.
9. Wray SH, Kuwabara T, Sanderson P. Menkes' hair disease: a light and electron microscopic study of the eye. Invest Ophthalmol 1976;15:128-38.
10. Bray PF. Sex-linked neurodegenerative disease associated with monilethrix. Pediatrics 1965;36:417-20.
11. Aguilar MJ, Chadwick DL, Okuyama K, Kamoshita S. Kinky hair disease. I. Clinical and pathological features. J Neuropathol Exp Neurol 1966;25:507-22.
12. Seelenfreund MH, Gartner S, Vinger PF. The ocular pathology of Menkes' disease (kinky hair disease). Arch Ophthalmol 1968;80:718-20.