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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76ページ中、75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
31. Mentzel HJ, Seidel J, Fitzek C, Vogt S, Zintl F, Kaiser WA. Intracranial andextracranial MR angiography in occipital horn syndrome. Eur Radiol., 10(10):1683,2000.32. Moller LB, Tumer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR,Horn N. Similar splice-site mutations of the ATP7A gene lead to differentphenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet. ,66(4): 1211-20, 2000.33. De Paepe A, Loeys B, Devriendt K, Fryns JP. Occipital Horn syndrome in a2-year-old boy. Clin Dysmorphol, 8(3): 179-83, 1999.34. Jacome DE. Epilepsy in Ehlers-Danlos syndrome. Epilepsia., 40(4): 467-73, 199935. Mentzel HJ, Seidel J, Vogt S, Vogt L, Kaiser WA. Vascular complications (splenicand hepatic artery aneurysms) in the occipital horn syndrome: report of a patientand review of the literature. Pediatr Radiol. 29(1): 19-22, 1999.36. Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J. A repeatedelement in the regulatory region of the MNK gene and its deletion in a patient withoccipital horn syndrome. Hum Mol Genet., 5(11): 1737-42, 1996.37. Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK. Distinctive Menkes diseasevariant with occipital horns: delineation of natural history and clinical phenotype.Am J Med Genet., 65(1): 44-51, 1996.38. Kaler SG. Menkes disease and occipital horn syndrome. Can Assoc Radiol J., 6(6):480, 1995.39. Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS,HolmesCS, Gahl WA. Occipital horn syndrome and a mild Menkes phenotype associatedwith splice site mutations at the MNK locus. Nat Genet., 8(2): 195-202, 1994.40. Herman TE, McAlister WH, Boniface A, Whyte MP. Occipital horn syndrome.Additional radiographic findings in two new cases. Pediatr Radiol., 22(5): 363-5,1992.41. Byers PH, Narayanan AS, Bornstein P, Hall JG. An X-linked form of cutis laxa dueto deficiency of lysyl oxidase. Birth Defects Orig Artic Ser., 12(5): 293-8, 1976.42. Kuivaniemi H, Peltonen L, Palotie A, Kaitila I, Kivirikko KI. Abnormal coppermetabolism and deficient lysyl oxidase activity in a heritable connective tissuedisorder. J Clin Invest., 69(3): 730-3, 1982.43. Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment ofMenkes disease and its variants. Pediatr Int, 41: 423-429, 1999.44. 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, 1990.73