Update on role of agalsidase alfa in management of Fabry disease

Drug Design, Development and Therapy

Volumn , Issue 5, 2011, Pages 155-173

  Ramaswami, Uma ^a  

^a CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Agalsidase alfa; Enzyme replacement therapy; Fabry disease

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; PLACEBO; ALPHA GALACTOSIDASE; ISOENZYME; RECOMBINANT PROTEIN;

ABDOMINAL PAIN; BRAIN HYPOXIA; CHILD CARE; CHRONIC KIDNEY DISEASE; DIARRHEA; DISEASE COURSE; DOSAGE SCHEDULE COMPARISON; DRUG BIOAVAILABILITY; DRUG BLOOD LEVEL; DRUG COST; DRUG DISTRIBUTION; DRUG EFFECT; DRUG EFFICACY; DRUG ELIMINATION; DRUG HALF LIFE; DRUG SAFETY; DRUG TOLERABILITY; DYSPNEA; ENZYME REPLACEMENT; FABRY DISEASE; FEVER; FLUSHING; GASTROINTESTINAL SYMPTOM; GLOMERULUS FILTRATION RATE; HEADACHE; HEARING IMPAIRMENT; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE HYPERTROPHY; HUMAN; KIDNEY DYSFUNCTION; NAUSEA AND VOMITING; NEUROPATHIC PAIN; PARESTHESIA; PRURITUS; QUALITY OF LIFE; REVIEW; RHINITIS; RIGOR; SIDE EFFECT; SINGLE DRUG DOSE; SOMNOLENCE; THORAX PAIN; TREATMENT DURATION; TREMOR; TREATMENT OUTCOME;

ALPHA-GALACTOSIDASE; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; HUMANS; ISOENZYMES; RECOMBINANT PROTEINS; TREATMENT OUTCOME;

EID: 79952912116     PISSN: 11778881     EISSN: None     Source Type: Journal    
DOI: 10.2147/DDDT.S11985     Document Type: Review

References (117)

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 1967;276(21):1163-1167.
2. Ramaswami U, Wendt S, Pintos-Morell G, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr. 2007;96(1):122-127.
3. 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(11):750-760.
4. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006; 79(1):31-40.
5. 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(11):769-775.
6. Whybra C, Miebach E, Mengel E, et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med. 2009;11(6): 441-449.
7. Fabry J. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Res. 1898;43(1):187-200.
8. Anderson W. A case of angiokeratoma. Br J Dermatol. 1898;10:113.
9. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249-254.
10. Elleder M, Bradova V, Smid F, et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol. 1990;417(5):449-455.
11. von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991;324(6):395-399.
12. 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(5):288-293.
13. Nakao S, Kodama C, Takenaka T, et al. Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003;64(3):801-807.
14. Hwu WL, Chien YH, Lee NC, et al. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G.A (IVS4+919G.A). Hum Mutat. 2009; 30(10):1397-1405.
15. Hoffmann B. Fabry disease: Recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis. 2009;4:21.
16. Mehta A, Beck M, Eyskens F, et al. Fabry disease: A review of current management strategies. QJM. 2010;103(9):641-659.
17. Parini R, Rigoldi M, Santus F, et al. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: Testing the effects with the Mainz Severity Score Index. Clin Genet. 2008;74(3):260-266.
18. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann Intern Med. 2007; 146(2):77-86.
19. Schiffmann R, Murray GJ, Treco D, et al. Infusion of alfagalactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A. 2000;97(1): 365-370.
20. Schiffmann R, Martin RA, Reimschisel T, et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr. 2010;156(5):832-837.
21. Ries M, Clarke JT, Whybra C, et al. Enzyme replacement in Fabry disease: Pharmacokinetics and pharmacodynamics of agalsidase alfa in children and adolescents. J Clin Pharmacol. 2007;47(10): 1222-1230.
22. Ries M, Clarke JT, Whybra C, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics. 2006; 118(3):924-932.
23. Blom D, Speijer D, Linthorst GE, Donker-Koopman WG, Strijland A, Aerts JM. Recombinant enzyme therapy for Fabry disease: Absence of editing of human alfa-galactosidase A mRNA. Am J Hum Genet. 2003;72(1):23-31.
24. Sakuraba H, Murata-Ohsawa M, Kawashima I, et al. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet. 2006;51(3):180-188.
25. Lee K, Jin X, Zhang K, et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology. 2003;13(4):305-313.
26. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA. 2001;285(21):2743-2749.
27. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alfa-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med. 2001;345(1):9-16.
28. Vedder AC, Linthorst GE, Houge G, et al. Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One. 2007;2(7):e598.
29. Shire Human Genetic Therapies. Replagal: Summary of product characteristics. Danderyd, Sweden: Shire Human Genetic Therapies; 2010.
30. Genzyme Europe. Fabrazyme: Summary of product characteristics. Naarden, The Netherlands: Genzyme Europe; 2010.
31. Silversides A. Clinical trial for Fabry disease faces continuing hurdles. CMAJ. 2009;181(11):E251-E252.
32. European Medicines Agency. Supply shortage of Fabrazyme - updated treatment recommendations required for adult male patients. 2009. Available from: www.ema.europa.eu/humandocs/PDFs/./fabrazyme/60258309en.pdf. Accessed January 1, 2011.
33. Mehta A. Agalsidase alfa for enzyme-replacement therapy in Fabry disease. Expert Rev Endocrinol Metab. 2010;5(5):641-652.
34. Mehta AB, Beck MP, Sunder-Plassmann G. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: PharmaGenesis; 2006.
35. Pastores GM, Thadhani R. Enzyme-replacement therapy for Anderson-Fabry disease. Lancet. 2001;358(9282):601-603.
36. Clarke JT, West ML, Bultas J, Schiffmann R. The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease. Genet Med. 2007;9(8):504-509.
37. 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(3):236-242.
38. Warnock DG, Daina E, Remuzzi G, West M. Enzyme replacement therapy and Fabry nephropathy. Clin J Am Soc Nephrol. 2009;5(2): 371-378.
39. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: Influence of alfa-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122-138.
40. Alroy J, Sabnis S, Kopp JB. Renal pathology in Fabry disease. J Am Soc Nephrol. 2002;13 Suppl 2:S134-S138.
41. Fogo AB, Bostad L, Svarstad E, et al. Scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant. 2009;25(7): 2168-2177.
42. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Longterm therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant. 2006;21(2):345-354.
43. Feriozzi S, Schwarting A, Sunder-Plassmann G, West M, Cybulla M. Agalsidase alfa slows the decline in renal function in patients with Fabry disease. Am J Nephrol. 2009;29(5):353-361.
44. Mehta A, Beck M, Elliott P, et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data. Lancet. 2009;374(9706):1986-1996.
45. Levey AS. Clinical practice. Nondiabetic kidney disease. N Engl J Med. 2002;347(19):1505-1511.
46. Schiffmann R, Askari H, Timmons M, et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol. 2007;18(5):1576-1583.
47. West M, Nicholls K, Mehta A, et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol. 2009;20(5):1132-1139.
48. Beck M, Ricci R, Widmer U, et al. Fabry disease: Overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004;34(12):838-844.
49. Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta A, Sunder- Plassmann G. Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin Nephrol. 2006;66(2):77-84.
50. Cybulla M, Walter KN, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G. Kidney transplantation in patients with Fabry disease. Transpl Int. 2009;22(4):475-481.
51. Wilcox WR, Banikazemi M, Guffon N, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004;75(1):65-74.
52. Eto Y, Ohashi T, Utsunomiya Y, et al. Enzyme replacement therapy in Japanese Fabry disease patients: The results of a phase 2 bridging study. J Inherit Metab Dis. 2005;28(4):575-583.
53. Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. 2006;69(7):1216-1221.
54. 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(5):1547-1557.
55. Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA. 2000;284(21):2771-2775.
56. Desnick RJ, Ioannou YA, Eng CM. A-galactosidase deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Basis of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw-Hill; 2001.
57. Chimenti C, Ricci R, Pieroni M, Natale L, Russo MA, Frustaci A. Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy. Cardiologia. 1999;44(5):469-473.
58. Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: A randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart. 2008;94(2):153-158.
59. Kampmann C, Whybra C, Baehner F, Beck M. Enzyme replacement therapy in Anderson-Fabry cardiomyopathy. Heart Metab. 2002;18: 39-41.
60. Kampmann C. Enzyme replacement therapy and the heart. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from Five Years of FOS. Oxford: Oxford PharmaGenesis; 2006.
61. Kampmann C, Linhart A, Devereux RB, Schiffmann R. Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: A 12- to 36-month, retrospective, blinded echocardiographic pooled analysis. Clin Ther. 2009;31(9): 1966-1976.
62. Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr. 2008;97(4):463-469.
63. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy - a retrospective analysis from the Fabry Outcome Survey. Clin J Pain. 2007;23(6):535-542.
64. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: Data from FOS (Fabry Outcome Survey). J Med Genet. 2005;42(3):247-252.
65. Schiffmann R, Floeter MK, Dambrosia JM, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve. 2003;28(6):703-710.
66. Gold KF, Pastores GM, Botteman MF, et al. Quality of life of patients with Fabry disease. Qual Life Res. 2002;11(4):317-327.
67. Dehout F, Roland D, Treille de Granseigne S, Guillaume B, Van Maldergem L. Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease. J Inherit Metab Dis. 2004;27(4):499-505.
68. Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: Prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol. 2007;5(12):1447-1453.
69. Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy. J Inherit Metab Dis. 2003;26(8):787-794.
70. Hajioff D, Goodwin S, Quiney R, Zuckerman J, MacDermot KD, Mehta A. Hearing improvement in patients with Fabry disease treated with agalsidase alfa. Acta Paediatr Suppl. 2003;92(443):28-30.
71. Hajioff D, Hegemann S, Conti G, et al. Agalsidase alfa and hearing in Fabry disease: Data from the Fabry Outcome Survey. Eur J Clin Invest. 2006;36(9):663-667.
72. Moore DF, Scott LT, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: Reversal by enzyme replacement therapy. Circulation. 2001; 104(13):1506-1512.
73. Jardim LB, Gomes I, Netto CB, et al. Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. J Inherit Metab Dis. 2006;29(5):653-659.
74. Schiffmann R, Hauer P, Freeman B, et al. Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve. 2006;34(1):53-56.
75. Mehta A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta Paediatr Suppl. 2005;94(447):24-27.
76. Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. Lancet. 2005; 366(9499):1794-1796.
77. Wozniak MA, Kittner SJ, Tuhrim S, et al. Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke. 2010;41(1):78-81.
78. Baptista MV, Ferreira S, Pinho EMT, et al. Mutations of the GLA gene in young patients with stroke: The PORTYSTROKE study -screening genetic conditions in Portuguese young stroke patients. Stroke. 2010;41(3):431-436.
79. Brouns R, Thijs V, Eyskens F, et al. Belgian Fabry study: Prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke. 2010;41(5):863-868.
80. Galanos J, Nicholls K, Grigg L, Kiers L, Crawford A, Becker G. Clinical features of Fabry's disease in Australian patients. Intern Med J. 2002;32(12):575-584.
81. Moore DF, Altarescu G, Ling GS, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke. 2002;33(2):525-531.
82. Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol. 2002;2:4.
83. Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006;43(4):347-352.
84. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study. J Inherit Metab Dis. 2003;26(7):617-627.
85. Ramaswami U, Parini R, Kampmann C, Beck M. Safety of agalsidase alfa in Fabry disease patients under 7 years. Acta Paediatr. November 29, 2010. [Epub ahead of print].
86. Tondel C, Bostad L, Hirth A, Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis. 2008;51(5):767-776.
87. Sheth KJ, Roth DA, Adams MB. Early renal failure in Fabry's disease. Am J Kidney Dis. 1983;2(6):651-654.
88. Ramaswami U, Najafian B, Schieppati A, Mauer M, Bichet DG. Assessment of renal pathology and dysfunction in children with Fabry disease. Clin J Am Soc Nephrol. 2010;5(2):365-370.
89. Allen LE, Cosgrave EM, Kersey JP, Ramaswami U. Fabry disease in children: Correlation between ocular manifestations, genotype and systemic clinical severity. Br J Ophthalmol. 2010;94(12): 1602-1605.
90. Keilmann A, Hajioff D, Ramaswami U. Ear symptoms in children with Fabry disease: Data from the Fabry Outcome Survey. J Inherit Metab Dis. 2009;32(6):739-744.
91. Sodi A, Ioannidis AS, Mehta A, Davey C, Beck M, Pitz S. Ocular manifestations of Fabry's disease: Data from the Fabry Outcome Survey. Br J Ophthalmol. 2007;91(2):210-214.
92. Schaefer RM, Tylki-Szymanska A, Hilz MJ. Enzyme replacement therapy for Fabry disease: A systematic review of available evidence. Drugs. 2009;69(16):2179-2205.
93. Lidove O, Joly D, Barbey F, et al. Clinical results of enzyme replacement therapy in Fabry disease: A comprehensive review of literature. Int J Clin Pract. 2007;61(2):293-302.
94. Sirrs S, Clarke JT, Bichet DG, et al. Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol Genet Metab. 2009;99(4):367-373.
95. Bengt s son BA, Johans son JO, Hol lak C, Linthor s t G, FeldtRasmussen U. Enzyme replacement in Anderson-Fabry disease. Lancet. 2003;361(9354):352.
96. Hopkin RJ, Bissler J, Grabowski GA. Comparative evaluation of alfagalactosidase A infusions for treatment of Fabry disease. Genet Med. 2003;5(3):144-153.
97. Desnick RJ. Enzyme replacement therapy for Fabry disease: Lessons from two alfa-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther. 2004;4(7):1167-1176.
98. Mignani R, Cagnoli L. Enzyme replacement therapy in Fabry's disease: Recent advances and clinical applications. J Nephrol. 2004; 17(3):354-363.
99. Vedder AC, Breunig F, Donker-Koopman WE, et al. Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3. Mol Genet Metab. 2008;94(3):319-325.
100. van Breemen MJ, Rombach SM, Dekker N, et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta. 2011; 1812(1):70-76.
101. Benichou B, Goyal S, Sung C, Norfleet AM, O'Brien F. A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab. 2009;96(1):4-12.
102. West MFG, LeMoine K, Bichet D, et al. The Canadian Fabry Disease Initiative: A randomised controlled trial of agalsidase therapy in Fabry neuropathy. Int J Clin Pharmacol Ther. 2010;48(Suppl 1):S51.
103. West MLK, Bichet D, Clarke J, et al. A randomised controlled trial of enzyme replacement therapy in Fabry disease: The Canadian disease initiative at year three. Mol Genet Metab. 2010;99(S39):Abstract 148.
104. European Agency for the Evaluation of Medicinal Products.Product Overview. Replagal. 2010. Available from: http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/medicines/000369/human_med_001029.jsp&mid=WC0b01ac058001d125&murl=menus/medicines/medicines.jsp&jsenabled=true. Accessed February 2, 2011.
105. Schellekens H. Bioequivalence and the immunogenicity of biopharmaceuticals. Nat Rev Drug Discov. 2002;1(6):457-462.
106. Rosenthal DI, Doppelt SH, Mankin HJ, et al. Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophagetargeted glucocerebrosidase. Pediatrics. 1995;96(4 Pt 1):629-637.
107. Grabowski GA, Leslie N, Wenstrup R. Enzyme therapy for Gaucher disease: The first 5 years. Blood Rev. 1998;12(2):115-133.
108. Mistry PK. Gaucher's disease: A model for modern management of a genetic disease. J Hepatol. 1999;30 Suppl 1:1-5.
109. Togawa T, Kodama T, Suzuki T, et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab. 2010;100(3): 257-261.
110. Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R. Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int. 1978;13(3):223-235.
111. Tondel C, Ramaswami U, Aakre KM, Wijburg F, Bouwman M, Svarstad E. Monitoring renal function in children with Fabry disease: Comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrol Dial Transplant. 2009;25(5):1507-1513.
112. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an underrecognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
113. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8(9):539-548.
114. Hughes DA, Ramaswami U, Elliott P, et al; National Specialist Commissioning Advisory Group (NSCAG). Guidelines for the Diagnosis and Management of Anderson-Fabry Disease. London, UK: National Commissioning Group of the National Health Service; 2005.
115. European Medicines Agency. Questions and answers on the shortages of Cerezyme and Fabrazyme. 2009. Available from: www.ema.europa.eu/humandocs/PDFs/EPAR/Cerezyme/51076609en.pdf. Accessed February 02, 2011.
116. Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: Better in home or hospital? Br J Nurs. 2006;15(6):330-333.
117. ClinicalTrials.gov. A study of two Fabrazyme (agalsidase beta) dosing regimens in treatment-naïve, male pediatric patients without severe symptoms (FIELD). Available from: http://clinicaltrials.gov/ct2/show/NCT00701415. Accessed February 02, 2011.