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Publications

Since 1898 when Fabry disease was first described in the literature, there have been over one thousand papers on the disease.

Fabry Disease Selected Bibliography

General

MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38:750–760.

MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38:769–775.

Whybra C, Wendrich K, Ries M, Gal A, Beck M. Clinical manifestation in female Fabry disease patients. Contrib Nephrol 2001; 136:245–250.

Renal

Grunfeld J, Chauveau D, Levy M. Anderson-Fabry disease: its place among other genetic causes of renal disease. J Am Soc Nephrol 2002; 13 Suppl 2:S126–129.

Grunfeld J, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis 2001; 24 Suppl 2:71–74.

Sessa A, Meroni M, Battini G, et al. Renal pathological changes in Fabry disease. J Inher Metab Dis 2001; 24 Suppl 2:66–70.

Cardiac

Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Col Cardiol 1986; 7:1157–1161.

Linhart A, Lubanda J-C, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inher Metab Dis 2001; 24(Suppl 2):75–83.

Linhart A, Paleček T, Bultas J, et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 2000; 39:1101–1108.

Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333:288–293.

Senechal M, Germain DP. Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clin Genet 2003; 63:46–52.

Neurological/Cerebrovascular

Grewal RP. Stroke in Fabry's disease. J Neurol 1994; 241:153–156.

Grewal RP, McLatchey SK. Cerebrovascular manifestations in a female carrier of Fabry's disease. Acta Neurol Belg 1992; 92:36–40.

Morgan SH, Rudge P, Smith SJ, et al. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)—investigation of symptomatic and presymptomatic patients. Q J Med 1990; 75:491–507.

Wendrich K, Whybra C, Ries M, Gal A, Beck M. Neurological manifestation of Fabry disease in females. Contrib Nephrol 2001; 136:241–244.

Ophthalmologic

Lester M, Sodi A, Occella C, Vittone P. Ocular findings in Fabry's disease. Contrib Nephrol 2001; 136:260–262.

Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry's disease. Arch Ophthalmol 1979; 97:671–676.

Dermatological

Lao LM, Kumakiri M, Mima H, et al. The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis. J Dermatol Sci 1998; 18:109–117.

Shelley ED, Shelley WB, Kurczynski TW. Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol 1995; 12:215–219.

Treatment

Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138:338–346.

Desnick RJ, Banikazemi M, Wasserstein M. Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Clin Nephrol 2002; 57:1–8.

Eng CM, Banikazemi M, Gordon RE, et al. A Phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68:711–722.

Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med 2001; 345:9–16.

Germain DP. Fabry disease: recent advances in enzyme replacement therapy. Expert Opin Investig Drugs 2002; 11:1467–1476.

Thurberg BI, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002; 62:1933–1946.


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