fabry2009
10/16

25引用文献 1) Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa. haemorrhagica Hebrae). Arch Dermatol Syph. 1898; 43: 187. 2) Anderson W. A case of angiokeratoma. Br J Dermatol. 1898; 10: 113. 3) Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA.1999 Jan 20; 281(3): 249-254. 4) Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999 Jul-Aug; 105(1-2): 151-156. 5) Spada M, Paglialdini S, Yasuda M, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul; 79(1): 31-40. Epub 2006 Apr 28. 6) Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, Tanaka H. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 1995; 333: 288-293. 7) Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement. Lessons from the Fabry Registry Molecular Genetics and Metabolism. 2008; 93: 112-128. 8) Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation. 2003; 107:1978-1984. 9) Kawano M, Takenaka T, Otsuji Y, Teraguchi H, Yoshifuku S, Yuasa T, Yu B, Miyata M, Hamasaki S, Minagoe S, Kanmura Y, Tei C. Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry’s disease. Am J Cardiol. 2007; 99: 261-263.10) Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y, Yoshida H, Horinouchi M, Tabata K, Yonezawa S, Yoshimitsu M, Higuchi K, Nakao S, Anan R, Minagoe S, Tei C. Terminal stage cardiac fi ndings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study. J Cardiol. 2008; 51: 50-59.11) Moon JCC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ, Leed PJ, Elliott PM. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease: evidence for a disease specifi c abnormality of the myocardial interstitium. Eur Heart J. 2003; 24: 2151-2155.12) Branton M, Schiff mann R, Kopp JB. Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol. 2002; 13 Suppl 2: S139-143.13) Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003; 138: 338-346.14) Mitsias P, Levine SR. Cerebrovascular complications of Fabry’s disease. Ann Neurol. 1996 Jul; 40(1): 8-17.15) Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005 Nov 19; 366(9499): 1794-1796.16) Bajart AM, Pavilak MA. Corneal Manifestations of Metabolic Disease. Principles and Practice of Ophthalmology, W.B. Saunders Company, 766.17) Arff a RC. Grayson’s Diseases of the Cornea. A Times Mirror Company,553-555.18) Sher N. The Ocular Manifestations in Fabry’s Disease. Arch Ophthalmol. 1979; 97: 671-676.19) Conti G et al. Auditory and vestibular fi ndings in Fabry disease: a study of hemizygous males and heterozygous females. Acta Paediatr. Suppl 2003; 443: 33-37.20) MacDermot KD et al. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001 Nov; 38(11): 750-760.21) Hegemann S et al. Hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest. 2006; 36: 654-662.22) Germain DP et al. Patients aff ected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet. 2002; 3: 10.23) Hajioff D et al. Hearing loss in Fabry disease: The eff ect of agalsidase alfa replacement therapy. J Inherit Metab. 2003; Dis26: 787-794. (Ib)24) Hajioff D et al. Hearing improvement in patients with Fabry disease treated with agalsidase alfa. Acta Paediatr. Suppl 2003; 443: 28-30. (Ib)25) Hajioff D et al. Agalsidase alpha and hearing loss in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest. 2006; 36: 663-667. (III)26) MacDermot KD et al. Anderson-Fabry disease:clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001 Nov; 38(11): 769-775.27) Ramaswami U et al. Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey. Acta Paediatr. 2006; 95: 86-92.28) Schachern PA et al. Otologic and Histopathology of Fabry Disease. Ann Otol Rhinol Laryngol. 1989; 98: 359-363.29) Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defi ned: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004 Mar; 34(3): 236-242.30) Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M. FOS European Investigators. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006 Jan; 95(1): 86-92.31) Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab. 2005 Aug; 85(4): 255-259.32) Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002; 105: 1407-1411.

元のページ 

10秒後に元のページに移動します

※このページを正しく表示するにはFlashPlayer9以上が必要です