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Desnick RJ. Fabry disease: unrecognized ESRD patients and effectiveness of enzyme replacement therapy on renal pathology and function. J Inherit Metab Dis 2002; 25(suppl 1):116

Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. а-Galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973;81:157-71

Desnick RJ, Bishop DF. Fabry disease: а-galac-tosidase deficiency and Schindler disease: а-N-acetylgalacto- saminidase deficiency. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS, editors. The metabolic and molecular bases of inherited disease. 6th edn. New York: McGraw-Hill Inc; 1989: p. 1751-96

Desnick RJ, Dean KJ, Grabowski GA, Bishop DF, Sweeley CC. Enzyme therapy XVII: metabolic and immunologic evaluation of а-galactosidase A replacement in Fabry disease. Birth Defects OrigArticSer 1980;16:393-413

Desnick RJ, Ioannou YA, Eng CM. а-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th edn. New York: McGraw-Hill; 2001: p. 3733-74

Desnick RJ, Simmons RL, Allen KY, Woods JE, Anderson CF, Najarian JS et al. Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery 1972; 72:203-11

Donati D, Novario R, Gastaldi L. Natural history and treatment of uremia secondary to Fabry's disease: an European experience. Nephron 1987;46:353-9

Donsante A, Vogler C, Muzyczka N, Crawford JM, Barker J, Flotte T et al. Observed incidence of tumorigenesis in long-term rodent studies ofrAAV vectors. Gene Ther 2001;8:1343-6

Dudognon P, Hauw JJ, de Baecque C, Derrida JP, Escourolle R, Nick EJ. [Amiodaron neuropathy: clinical and pathological study of a new drug induced lipidosis (author's transl)]. Rev Neurol (Paris) 1979;135:527-40

Efthimiou J, McLelland J, Betteridge DJ. Short PR intervals and tachyarrhythmias in Fabry's disease. Postgrad Med J 1986;62:285-7

Eisman S, Mehta A, Orteu CH. Case 3. Fabry disease. Clin Exp Dermatol 2003;28:569-70

Elleder M. Sequelae of storage in Fabry disease – pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 2003;92:46-53

Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L 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;68:711-22

Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human а-galactosidase A gene. Hum Mutat 1994;3:103-11

Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ. Nature and frequency of mutations in the а-galactosidase A gene that cause Fabry disease. Am J Hum Genet 1993;53:1186-97

Epinette WW, Norins AL, Drew AL, Zeman W, Patel V. Angiokeratoma corporis diffusum with а-l-fucosidase deficiency. Arch Dermatol 1973;107:754-7

Eto Y, Ohashi T, Utsunomiya Y, Fujiwara M, Mizuno A, Inui K et al. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis 2005;28:575-83

Fabrazyme, Summary of Product Characteristics, February 2006

Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Derm Syph 1898;43:187-200

Fabry J. Zur Klinik und Atiologie des Angiokeratoma. Arch Derm Syph 1916;123:294-307

Facher JJ, Robin NH. Genetic counseling in primary care. What questions are patients likely to ask, and how should they be answered? Postgrad Med 2000;107:59-60, 63-6

Fan JQ. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends PharmacolSci 2003;24:355-60

Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal a-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1999;5:112-15

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