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

ページタイトル
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

76ページ中、27ページ目の概要を表示しています。

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

当該ページを開く

Flash版でブックを開く

このブックはこの環境からは閲覧できません。

当該ページの概要

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

H. Kodama et al. / Brain & Development 33 (2011) 243?251 251[20] Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, PapatheodorouA, Manesis E, et al. Genotype?phenotype correlationsfor a wide spectrum of mutations in the Wilson disease gene(ATP7B). Am J Med Genet A 2004;131:168?73.[21] Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M,Tarnacka B, et al. Frameshift and nonsense mutations in the genefor ATPase7B are associated with severe impairment of coppermetabolism and with an early clinical manifestation of Wilson’sdisease. Clin Genet 2005;68:524?32.[22] Barada K, El-Atrache M, El-Haji II, Rida K, El-Hajjiar J,Mahfound Z, et al. Homozygous mutations in the conserved ATPhinge region of the Wilson disease gene. J Clin Gastroenterol2010;44:432?9.[23] Lorincz MT. Neurologic Wilson’s disease. Ann N Y Acad Sci2010;1184:173?87.[24] Prashanth LK, Sinha S, Taly AB, Mahadevan A, Vasudev MK,Shankar SK. Spectrum of epilepsy in Wilson’s disease withelectroencephalographic, MR imaging and pathological correlates.J Neurol Sci 2010;15:44?51.[25] Pestana Knight EM, Gilman S, Selwa L. Status epilepticus inWilson’s disease. Epileptic Disord 2009;11:138?43.[26] Kodama H, Okabe I, Yanagisawa M, Nomiyama H, NomiyamaK, Nose O, et al. Does CSF copper level in Wilson disease reflectcopper accumulation in the brain? Pediatr Neurol 1988;4:35?7.[27] Sinha S, Taly AB, Prashanth LK, Ravishankar S, ArunodayaGR, Vasudev MK. Sequential MRI changes in Wilson’s diseasewith de-copper therapy: a study of 50 patients. Br J Radiol2007;80:744?9.[28] Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S,Sternlieb I, et al. Diagnosis and phenotypic classification ofWilson disease. Liver Int 2003;23:139?42.[29] Roberts EA, Schilsky ML. Diagnosis and treatment of Wilsondisease: an update. Hepatology 2008;47:2089?111.[30] Brewer GJ. Neurologically presenting Wilson’s disease: epidemiology,pathophysiology and treatment. CNS Drugs 2005;19:185?92.[31] Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, KluinKJ, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate:IV. Comparison of tetrathiomolybdate and trientinein a double-blind study of treatment of the neurologicpresentation of Wilson disease. Arch Neurol 2006;63:521?7.[32] Brewer GJ, Askari FK. Wilson’s disease: clinical managementand therapy. J Hepat 2005;42:S13?21.[33] Prashanth LK, Taly AB, Sinha S, Arunodaya GR, SwamyHS. Wilson’s disease: diagnostic errors and clinical implications.J Neurol Neurosurg Psychiatry 2004;75:907?9.[34] Komatsu H, Fujisawa T, Inui A, Sogo T, Sekine I, Kodama H,et al. Hepatic copper concentration in children undergoing livingrelated liver transplantation due to Wilsonian fulminant hepaticfailure. Clin Transplant 2002;16:227?32.[35] Duarte-Rojo A, Zepeda-Gomez S, Garcia-Leiva J, Remes-TrocheJM, Angeles-Angeles A, Torre-Delgadillo A, et al. Liver transplantationfor neurologic Wilson’s disease: reflections on twocases within a Mexican cohort. Rev Gastroenterol Mex2009;74:218?23.[36] Das SK, Ray K. Wilson’s disease: an update. Nat Clin PractNeurol 2006;2:482?93.25