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Случай диагностики болезни Андерсона-Фабри
Случай болезни Фабри у взрослого глазами кардиолога и генетика
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Takenaka T, Qin G, Brady RO, Medin JA. Circulating a-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease. Hum Gene Ther 1999b;10:1931-9

Takeuchi M, Takasaki S, Miyazaki H, Kato T, Hoshi S, Kochibe N et al. Comparative study of the asparagine-linked sugar chains of human erythropoietins purified from urine and the culture medium of recombinant Chinese hamster ovary cells. J Biol Chem 1988;263:3657-63

Tanaka H, Adachi K, Yamashita Y, Toshima H, Koga Y. [Four cases of Fabry's disease mimicking hypertrophic cardiomyopathy]. J Cardiol 1988;18:705-18

Thadhani R, Wolf M, West ML, Tonelli M, Ruthazer R, Pastores GM et al. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002;61:249-55

Thurberg BL, Randolph Byers H, Granter SR, Phelps RG, Gordon RE, O'Callaghan M. Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies. J Invest Dermatol 2004;122:900-8

Tremont-Lukats IW, Megeff C, Backonja MM. Anticonvulsants for neuropathic pain syndromes: mechanisms of action and place in therapy. Drugs 2000;60:1029-52

Utsumi K, Kase R, Takata T, Sakuraba H, Matsui N, Saito H et al. Fabry disease in patients receiving maintenance dialysis. Clin Exp Nephrol 2000;4:49-51

Vedder AC, Strijland A, Weerman MA, Florquin S, Aerts JM, Hollak CE. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 2006;29:106-11

Vogler C, Galvin N, Levy B, Grubb J, Jiang J, Zhou XY et al. Transgene produces massive overexpression of human beta-glucuronidase in mice, lysosomal storage of enzyme, and strain-dependent tumors. Proc Natl Acad Sci USA 2003; 100:2669-73

von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991;324:395-9

Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003; 108:1299-301

Wendrich K, Whybra C, Ries M, Kampmann C, Baehner F, Miebach E et al. Neurological manifestation of Fabry disease in male patients. J Inherit Metab Dis 2001;24(Suppl 2):139

Wenger DA, Sattler M, Mueller OT, Myers GG, Schneiman RS, Nixon GW. Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. Clin Genet 1980; 17:323-34

Wherrett JR, Hakomori SI. Characterization of a blood group B glycolipid, accumulating in the pancreas of a patient with Fabry's disease. J Biol Chem 1973;248:3046-51

Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001;24:715-24

Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75:65-74

Wise D, Wallace HJ, Jellinek EH. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 1962;31:177-206

Wood S, Nadler HL. Fabry's disease: absence of an a-galactosidase isozyme. Am J Hum Genet 1972;24:250-5

Yam GH, Zuber C, Roth J. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J 2005;19:12-18

Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Fabry disease: characterization of a-galactosidase A double mutations and the D313Y plasma enzyme pseudo- deficiency allele. Hum Mutat 2003;22:486-92

Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 2005;94:51-4

Zhu A, Hurst R. Anti-N-glycolylneuraminic acid antibodies identified in healthy human serum. Xenotransplantation 2002;9:376-81

Ziegler RJ, Yew NS, Li C, Cherry M, Berthelette P, Romanczuk H et al. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum Gene Ther 1999;10:1667-82