タイトル厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書
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- 厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書
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厚生労働科学研究費補助金（難治性疾患克服研究事業）「Menkes 病・occipital horn 症候群の実態調査、早期診断基準確立、治療法開発に関する研究」平成23-24年度 総合研究報告書
44. Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC. Molecularcorrelates of epilepsy in early diagnosed and treated Menkes disease. J InheritMetab Dis, 33: 583-589, 2010.45. Christodoulou J, Danks DM, Sarkar B, Baerlocher KE, Casey R, Horn N, Tumer Z,Clarke JTR. Early treatment of Menkes disease with parenteral copper-histidine:long-term follow-up of four treated patients. Am J Med Genet ,76: 154-164, 1998.46. Kemppainen R, Hamalainen ER, Kuivaniemi H, Tromp G, Pihlajaniemi T, KivirikkoKI. Expression mRNAs for lysyl oxydase and type III procollagen in culturedfibroblasts from patients with the Menkes and Occipital Horn syndromes asdetermined by quantitative polymerase chain reaction. Arch Biochem Biophys, 328:101-106, 1996.47. Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment ofMenkes disease and its variants. Pediatr Int, 41: 423-429, 1999.48. Olivares JL, Bueno I, Gallati S, Ramos FJ. Late-onset treatment in Menkes disease:is there a correlation between genotype and response to therapy. Clin Genet, 69:363-366, 2006.49. Tanaka K, Kobayashi K, Fujita Y, Fukuhara C, Onosaka S, Min K. Effects ofchelators on copper therapy of macular mouse, a model animal of Menkes’kinkydisease. Res Commun Chem Pathol Pharmacol, 69: 217-27, 1990.50. Kodama H, Gu Y.-H, Shiga K, Fujisawa C, Kozuma T. Effect of copper anddiethyldithiocarbamate combination therapy on the macular mouse, an animalmodel of Menkes disease. J Inherit Metab Dis, 28: 971-78, 2005.51. Bhadhprasit W, Kodama H, Fujisawa C, Hiroki T, Ogawa E. (2012) Effects of copperand disulfiram combination therapy on the macular mouse, a model of Menkesdisease. J Trace Elem Med Biol, 26: 105-108, 2012.52. Ogawa E, Kodama H. Effects of disulfiram treatment in patients with Menkesdisease and occipital horn syndrome.J Trace Elem Med Biol, 26: 102-104, 2012.53. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update.Hepatology, 47: 2089-2111, 2008.62