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

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Gu Y, Kodama H, Kato T.Congenital abnormalities inJapanese patients withMenkes disease.Brain Dev. 34(9) 746-749 2012Kodama H, Fujisawa C,Bhadhprasit W.InheritedCopper TransportDisorders: BiochemicalMechanisms, Diagnosis, andTreatment.Curr DrugMetab.13(3) 237-250 2012OgawaE, Kodama HEffects of disulfiram treatmentin patients with Menkesdisease and occipital hornsyndrome.J Trace ElemMed Biol.26 102-104 2012Bhadhprasit W, Kodama H,Fujisawa C, Hiroki T, OgawaE.Effect of copper and disulfiramcombination therapy on themacular mouse, a model ofMenkes disease.J Trace ElemMed Biol.26 105-108 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) 270-276 2012Gu YH, Kodama H, Kato T.Congenital abnormalities inJapanease patients withMenkes disease.Brain Dev. 34(9) 746-749 2012Kodama H, Fujisawa C,Bhadhprasit W.Inherited Copper TransportDisorders:BiochemicalMechanisms, Diagnosis, andTreatment.Curr DrugMetab.13(3) 237-250 2012Kodama H, Fujisawa C,Bhadhprasit W.Pathology, clinical featuresand treatments of congenitalcopper metabolic disorders-focus on neurologic aspects.Brain Dev. 33(3) 243-251 2011Mogensen M, Skjorringe T,Kodama H, Silver K, Horn N,Moller LB.Exon duplications in theATP7A gene: frequency andtranscriptional behaviour.Orphanet JRare Dis.6 73 (1-11) 2011Li J, Funato M, Tamai H,Wada H, Nishihara M,Iwamoto H, Okazaki Y,Shintaku H.Predictors of neurologicaloutcome in cooled neonates.Pediatr Int.In press40