Menkes Disease: Scientific Articles

Featured Articles

The following featured articles include those from NICHD researchers or NICHD-supported researchers.

  • Donsante, A., Sullivan, P., Goldstein, D. S., Brinster, L. R., & Kaler, S. G. (2013). L-Threo-Dihydroxyphenylserine corrects neurochemical abnormalities in a menkes disease mouse model. Annals of Neurology, 73(2), 259-265. PMID: 23224983  
  • Donsante, A., Yi, L., Zerfas, P., Brinster, L., Sullivan, P., Goldstein, D. S., et al. (2011). ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy, 19(12), 2114-2123. PMID: 21878905
  • Haddad, M. R., Macri, C. J., Holmes, C. S., Goldstein, D. S., Jacobson, B. E., Centeno, J. A., et al. (2012). In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. Molecular Genetics and Metabolism, 107(1-2), 222-228. PMID: 22695177
  • Hicks, J. D., Donsante, A., Pierson, T. M., Gillespie, M. J., Chou, D. E., & Kaler, S. G. (2012). Increased frequency of congenital heart defects in Menkes disease. Clinical Dysmorphology, 21(2), 59-63. PMID: 22134099
  • Hill, S. C., Dwyer, A. J., & Kaler, S. G. (2012). Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse. Pediatric Radiology, 42(11), 1301-1304. PMID: 22825777
  • Møller, L. B., Hicks, J. D., Holmes, C. S., Goldstein, D. S., Brendl, C., Huppke, P., Kaler, S. G. (2011). Diagnosis of copper transport disorders. Current Protocols in Human Genetics, 17(17.9). PMID: 21735378
  • Kaler, S. G., Holmes, C. S., Goldstein, D. S., Tang, J., Godwin, S. C., Donsante, A., et al. (2008). Neonatal diagnosis and treatment of Menkes disease. New England Journal of Medicine, 358(6), 605-614. PMID: 18256395

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