|
1) Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A Deficiency: Fabry Disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw Hill; 2001. p. 3733-74
|
|
|
|
|
2) Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004; 34: 236-42
|
|
|
|
|
3) Kobayashi M, Ohashi T, Sakuma M, et al. Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease. J Inherit Metab Dis. 2008 Jan 21
|
|
|
|
|
|
4) Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol. 1996; 40: 8-17
|
|
|
|
|
|
5) Müller MJ, Müller KM, Dascalescu A, et al. Psychiatric and neuropsychological signs and symptoms in patients with fabry disease. Fortschr Neurol Psychiatr. 2005; 73: 687-93
|
|
|
|
|
|
6) Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005; 366: 1794-6
|
|
|
|
|
|
7) Gupta S, Ries M, Kotsopoulos S, et al. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine(Baltimore). 2005; 84: 261-8
|
|
|
|
|
|
8) Fellgiebel A, Müller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol. 2006; 5: 791-5
|
|
|
|
|
|
9) Sims K, Politei J, Banikaemia M, et al. Stroke in Fabry disease frequently occurs before diagnosis and the absence of other clinical events. Stroke. 40: 2009: 788-94
|
|
|
|
|
|
10) Eng CM, Guffon N, Wilcox WR, et al. International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med. 2001; 345: 9-16
|
|
|
|
|
|
11) Schiffmann R, Kopp JB, Austin HA III, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001; 285: 2743-9
|
|
|
|
|
|
12) Wilcox WR, Banikazemi M, Guffon N, et al. International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004; 75: 65-74
|
|
|
|
|
|
13) Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007; 18: 1547-57
|
|
|
|
|
|
14) Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine(Baltimore). 2002; 81: 122-38
|
|
|
|
|