Enfermedad de Menkes

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  1. Danks DM. Inborn errors of trace element metabolism. Clin Endocrinol Metab 1985;14:591–615.
  2. Scheinberg IH, Collins JC. Menke’s disease: a disorder of zinc metabolism? Lancet 1989;1(8638):619.
  3. Kaler SG, Buist NR, Holmes CS, et al. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol 1995;38:921–8.
  4. Cordano A. Clinical manifestations of nutritional copper deficiency in infants and children. Am J Clin Nutr 1998;67:1012S–6S.
  5. Tumer Z, Moller LB, Horn N. Mutation spectrum of APTP7A, the gene defective in Menkes disease. Adv Exp Med Biol 1999;448:83–95.
  6. Kaler SG. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am J Clin Nutr1998;67:1029S–34S.
  7. Tumer Z, Tonneson T, Bohmann J, et al. First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet 1994;31:615–7.
  8. Sarkar B, Lingertat-Walsh K, Clarke JT. Copper-histidine therapy for Menkes disease. J Pediatr 1993;123:828–30.
  9. Ambrosini L, Mercer JF. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Hum Mol Genet 1999;8:1547–55.
  10. Daish P, Wheeler EM, Roberts PF, Jones RD. Menkes’s syndrome. Report of a patient treated from 21 days of age with parenteral copper. Arch Dis Child 1978;53:956–8.
  11. Garnica AD. The failure of parenteral copper therapy in Menkes Kinky hair syndrome. Eur J Pediatr 1984;142:98–102.
  12. Christodoulou J, Danks DM, Sarkar B, et al. Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 1998;76:154–64.
  13. Scheinberg IH, Collins JC. Menkes’ disease: a disorder of zinc metabolism? Lancet 1989;1(8638):619 [letter].
  14. Sone T, Yamaoka K, Minami Y, Tsunoo H. Induction of metallothionein synthesis in Menkes’ and normal lyphoblastoid cells is controlled by the level of intracellular copper. J Biol Chem 1987;262:5878–85.
  15. Herd SM, Camakaris J, Christofferson R, et al. Uptake and efflux of copper-64 in Menkes’-disease and normal continuous lymphoid cell lines. Biochem J 1987;247:341–7.
  16. Van den Berg GJ, Kroon JJ, Wijburg FA, et al. Muscle cell cultures in Menkes’ disease: copper accumulation in myotubules. J Inhert Metab Dis 1990;13:207–11.
  17. Rayner MH, Suzuki KT. Effect of medium copper concentration on the growth, uptake and intracellular balance of copper and zinc in Menkes’s and normal control cells. Biometals 1994;7:253–60.