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

発表者氏名論文タイトル名発表誌名巻号ページ出版年Sakazaki 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 mutation J Humspectrum of and founder effects Genet.affecting the PTS gene inEast-Asian populations57(3) 159-60 2012Wakahara R, Kunimoto H,Tanino K, Kojima H, Inoue A,Shintaku H, Nakajima KPhospho-Ser727 of STAT3regulates STAT3 activity byenhancing dephosphorylationof phospho-Tyr705 largelythrough TC45.Genes Cells. 17(2) 132-45 2012Soneda A, Teruya H, FuruyaN, Yoshihashi H, Enomoto K,Ishikawa A, Matsui K,Kurosawa K.Proportion of malformationsand genetic disorders amongcases encountered at high-careunit in a children’s hospital.Eur JPediatr.171(2) 301-5 2012Aso K, Okano Y,Takeda T,Sakamoto O, Ban K, Iida K,Yamano T, Shinkaku H.Spectrum of glutamatedehydrogenase mutations inJapanese patients withcongenital hyperinsulinismand hyperammonemiasyndrome.Osaka CityMed J.57(1) 1-9 2011Kurosawa K, Masuno M,Kuroki Y.Trends in occurrence oftwinbirths in Japan.Am J MedGenet A.158A(1)75-7 2012Saitsu H, OsakaH, Sugiyama Early infantile epilepticS, Kurosawa K, Mizuguchi encephalopathy associatedT, Nishiyama K, Nishimura with the disrupted geneA, Turusaki Y, Doi H, Mi encoding Split-Robo Rhoyake N, Harada N, Kato M, GTPase activating protein 2Matsumoto N.(SRGAP2).Am J MedGenet A.158A(1)199-205 2012Tachibana Y, Aida N, Enomoto A case of Sjogren-LarssonK, Iai M, Kurosawa K. syndrome with minimal MRimaging findings facilitated byproton spectroscopy.PediatrRadiol.42 380-382 201241