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24年度 総括・分担研究報告書

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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24年度 総括・分担研究報告書

研究成果の刊行に関する一覧表発表者氏名論文タイトル名発表誌名巻号ページ出版年OgawaE, Kodama HBhadhprasit W, Kodama H,Fujisawa C, Hiroki T, OgawaE.Effects of disulfiram treatment J Trace Elemin patients with Menkes Med Biol.disease and occipital hornsyndrome.Effect of copper and disulfiramcombination therapy on themacular mouse, a model ofMenkes disease.J Trace ElemMed Biol.26 102-104 201226 105-108 2012Munakata M, Kodama H,Fujisawa C, Hiroki T et al.Copper-trafficking efficacy ofcopper-pyruvaldehydebis(N4-methylthiosemicarbazone) on the macular mouse, ananimal model of Menkesdisease.Pediatr Res.72(3)270-2762012Kodama H, Fujisawa C,Bhadhprasit W.Inherited Copper TransportDisorders:BiochemicalMechanisms, Diagnosis, andTreatment.Curr DrugMetab.13(3) 237-250 2012Li J, Funato M, Tamai H,Wada H, Nishihara M,Iwamoto H, Okazaki Y,Shintaku H.Predictors of neurologicaloutcome in cooled neonates.Pediatr Int.In pressSakazaki H, Niwa K,Nakazawa M, Saji T,Nakanishi T, Takamuro M,Ueno M, Kato H, Takatsuki S,Matsushima M, Kojima N,Ichida F, Kogaki S, Kido S,Arakaki Y, Waki K, Akagi T,Joo K, Muneuchi J, Suda K,Lee HJ, Shintaku HClinical features of adult Int J Cardiolpatients with Eisenmenger'ssyndrome in Japan and Korea.In pressShintaku H, Ohwada M.Long-term follow-up oftetrahydrobiopterin therapy inpatients withtetrahydrobiopterin deficiencyin Japan.Brain Dev.35(5)406-102013Shintaku HPediatric neurotransmitterdisease in JapanNo ToHattatsu44 (5) 361-7 2012Shintaku HCommentary on the mutationspectrum of and foundereffects affecting the PTS genein East-Asian populationsJ HumGenet.57(3) 159-60 2012─66─