Bibliography
- Desnick RJ, Ioannou Y, Eng CM. Fabry disease: alpha galactosidase A deficiency. In: Scriver CH, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited in Fabry disease. McGraw Hill, New York; 2001. p. 37-74
- Mac Dermot 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;38:769-75
- MacDermot KD, Holmes H, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-60
- Ries M, Ramaswami U, Parini R, The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 2003;162:767-72
- Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 2007;9:39-45
- Lidove O, West ML, Pintos-Morell G, Effects of enzyme replacement therapy in Fabry disease–a comprehensive review of the medical literature. Genet Med 2010;12:668-79
- Schiffmann R, Kopp JB, Austin HA III, Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9
- Eng CM, Guffon N, Wilcox WR, Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16
- Hughes DA, Elliott PM, Shah J, Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomized, double-blind, placebo-controlled clinical trial of agalsidase-alpha. Heart 2008;94:153-8
- Banikazemi M, Bultas J, Waldek S, Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007;146:77-86
- Germain DP, Waldek S, Banikazemi M, 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
- Mehta A, Beck M, Elliott P, Enzyme replacement therapy with agalsidase alpha in patients with Fabry's disease: an analysis of registry data. Lancet 2009;374:1986-96
- West M, Nicholls K, Mehta A, Agalsidase alpha and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009;20:1132-9
- Feriozzi S, Schwarting A, Sunder-Plassmann G, Agalsidase alpha slows the decline in renal function in patients with Fabry disease. Am J Nephrol 2009;29(5):353-61
- Schwarting A, Dehout F, Feriozzi S, Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin Nephrol 2006;66(2):77-84
- Cybulla M, Walter KN, Schwarting A, Kidney transplantation in patients with Fabry disease. Transpl Int 2009;22(4):475-81
- Wilcox WR, Banikazemi M, Guffon N, Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004;75(1):65-74
- Breunig F, Weidemann F, Strotmann J, Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 2006;69(7):1216-21
- Hajioff D, Hegemann S, Conti G, Agalsidase alpha and hearing in Fabry disease: data from the Fabry Outcome Survey. Eur J Clin Invest 2006;36(9):663-7
- Hoffmann B, Beck M, Sunder-Plassmann G, 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):535-42
- Kampmann C, Linhart A, Devereux RB, Schiffmann R. Effect of agalsidase alpha replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis. Clin Ther 2009;31:1966-76
- Whybra C, Miebach E, Mengel E, A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alpha in 36 women with Fabry disease. Genet Med 2009;11:441-9
- Dehout F, Roland D, Treille de Granseigne S, Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease. J Inherit Metab Dis 2004;27(4):499-505
- Schiffmann R, Martin RA, Reimschisel T, Four-year prospective clinical trial of agalsidase alpha in children with Fabry disease. J Pediatr 2010;156(5):832-7
- Baehner F, Kampmann C, Whybra C, Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis 2003;26:617-27
- Ries M, Clarke JT, Whybra C, Enzyme-replacement therapy with agalsidase alpha in children with Fabry disease. Pediatrics 2006;118(3):924-32
- Ramaswami U, Wendt S, Pintos-Morell G, Enzyme replacement therapy with agalsidase alpha in children with Fabry disease. Acta Paediatr 2007;96(1):122-7
- Borgwardt L, Feldt-Rasmussen U, Rasmussen AK, Fabry disease in children: agalsidase-beta enzyme replacement therapy. Clin Genet 2012; Epub ahead of print
- Ramaswami U, Parini R, Pintos-Morell G, Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey. Clin Genet 2012;81:485-90
- Ramaswami U, Parini R, Kampmann C, Beck M. Safety of agalsidase alpha in Fabry disease patients under 7 years old. Acta Paediatr 2010;100:605-11
- Wraith JE, Tylki-Szymanska A, Guffon N, Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008;152:563-70
- Hughes DA, Barba Romero M-A, Hollak C, Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS—the Fabry Outcome Survey. Mol Gen Metab 2011;103:207-14
- Linthorst GE, Vedder AC, Ormel EE, Home treatment for Fabry disease: practice guidelines based on 3 years' experience in The Netherlands. Nephrol Dial Transplant 2006;21:355-60
- Hughes DA, Milligan A, Mehta A. Home therapy for lysosomal storage disorders. Br J Nurs 200716(22):1384, 1386-9
- Cousins A, Lee P, Rorman D, Home-based infusion therapy for patients with Fabry disease. Br J Nurs 2008;17(10):653-7
- Vedder AC, Linthorst GE, Houge G, Treatment of Fabry disease: outcome of a comparative trial with agalsidase alpha or beta at a dose of 0.2 mg/kg. PLoS One 2007;2(7):e598
- Eng CM, Germain DP, Banikazemi M, Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-48
- Hughes DA, Ramaswami U, Elliott P, Guidelines for the diagnosis and management of Anderson-Fabry disease. 2005. Available from: http://www.dh.gov.uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_4118404 [Accessed 06 November 2012]
- Guest JF, Concolino D, Di Vito R, Modelling the resource implications of managing adults with Fabry disease in Italy. Eur J Clin Invest 2011;41:710-18
- Germain DP, Giugliani R, Hughes DA, Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis 2012;7(1):91
- Spada M, Pagliardini S, Yasuda M, High incidence of later-onset Fabry disease revealed by newborn screening. Am J Human Genetics 2006;79(1):31-40
- Ortiz A, Cianciaruso B, Cizmarik M, End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant 2010;25:769-75
- Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009;40:788-94
- Mehta A, Ricci R, Widmer U, Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42
- Lin HY, Chong KW, Hsu JH, High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circulation 2009;2(5):450-6
- Ramaswami U, Whybra C, Parini R, Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006;95:86-92
- Hopkin RJ, Bissler J, Banikazemi M, Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008;64:550-5
- Ries M, Gupta S, Moore DF, Pediatric Fabry disease. Pediatrics 2005;115:e344-e55
- Bouwman MG, Maurice-Stam H, Linthorst GE, Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life. Mol Genet Metab 2011;104(3):308-13
- Orteu CH, Jansen T, Lidove O, Fabry disease and the skin: data from FOS, the Fabry Outcome Survey. Br J Dermatol 2007;157:331-7
- Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30
- Thurberg BL, Politei JM. Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol 2012;43:610-14
- Tøndel 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):767-76
- Najafian B, Svarstad E, Bostad L, Progressive podocyte injury and globotriaosylceramide (GL3) accumulation in young patients with Fabry disease. Kidney Int 2011;79(6):663-70
- Sheth KJ, Roth DA, Adams MB. Early renal failure in Fabry's disease. Am J Kidney Dis 1983;2(6):651-4
- Branton M, Schiffmann R, Sharda G, Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine 2002;81:122-38
- Kampmann C, Wiethoff CM, Whybra C, Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 2008;97(4):463-9
- Reisin R, Romero C, Marchesoni C, Brain MRI findings in patients with Fabry disease. J Neurol 2011;305:41-4
- Cabrera-Salazar MA, O'Rourke E, Charria-Ortiz G, Barranger JA. Radiological evidence of early cerebral microvascular disease in young children with Fabry disease. J Pediatr 2005;147:102-5
- Najafian B, Mauer M, Hopkin RJ, Renal complications of Fabry disease in children. Pediatr Nephrol 2012; Epub ahead of print
- Giacomini PS, Shannon PT, Clarke JT, Jaigobin C. Fabry's disease presenting as stroke in a young female. Can J Neurol Sci 2004;31:112-14
- Wilcox WR, Oliveira JP, Hopkin RJ, Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008;93:112-28
- Deegan PB, Baehner AF, Barba Romero M-A, Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006;43:347-52
- Mehta A, Beck M, Eyskens F, Fabry disease: a review of current management strategies. Q J Med 2010;103:641-59
- Weidemann F, Niemann M, Sommer C, Interdisciplinary approach towards female patients with Fabry disease. Eur J Clin Invest 2012;42:455-62
- Bouwman M, Rombach SM, Schenk E, Prevalence of symptoms in female Fabry disease patients: a case-control survey. J Inherit Metab Dis 2012;35:891-8
- Chimenti C, Pieroni M, Morgante E, Prevalence of Fabry disease in female patients with late- onset hypertrophic cardiomyopathy. Circulation 2004;110:1047-53
- Patel MR, Cecchi F, Cizmarik M, Cardiovascular events in patients with Fabry disease natural history data from the Fabry registry. J Am Coll Cardiol 2011;57(9):1093-9
- Niemann M, Hemmann S, Hu K, Differences in Fabry cardiomyopathy between female and male patients consequences for diagnostic assessment. JACC Cardiovasc Imaging 2011;4:592-601
- Ortiz A, Oliveira JP, Waldek S. Nephropathy in males and females with Fabry disease: cross sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 2008;23:1600-7
- Schiffmann R, Warnock DG, Banikazemi M, Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-11
- Feldt-Rasmussen U. Fabry disease and early stroke. Stroke Res Treat 2011;2011:615218
- Fellgiebel A, Muller MJ, Mazanek M, White matter lesion severity in male and female patients with Fabry disease. Neurology 2005;65:600-2
- O'Brien B, Shnitka T, McDougall R, Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry disease. Gastroenterology 1982;82:957-62
- Hughes DA. Early therapeutic intervention in females with Fabry disease? Acta Paediatrica 2008;97:41-7
- Togawa T, Kawashima I, Kodama T, Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease. Biochem Biophys Res Commun 2010;399:716-20
- van Breemen MJ, Rombach SM, Dekker N. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 2011;1812:70-6
- Rombach SM, Aerts JM, Poorthuis BJ, Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One 2012;7(10):e47805
- Dupont FO, Gagnon R, Boutin M, Auray-Blais C. A metabolomic study reveals novel plasma lyso-Gb3 analogs as Fabry disease biomarkers. Curr Med Chem 2012. [Epub ahead of print]
- Kistler AD, Siwy J, Breunig F, A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy. PLoS One 2011;6(6):e20534
- De Francesco PN, Mucci JM, Ceci R, Higher apoptotic state in Fabry disease peripheral blood mononuclear cells: effect of globotriaosylceramide. Mol Genetic Metab 2011;104:319-24
- Shah JS, Hughes DA, Tayebjee MH, Extracellular matrix turn-over and disease severity in Anderson-Fabry disease. J Inherit Metab Dis 2007;30:88-95
- Coats CJ, Parisi V, Ramos M, Role of serum n-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with Anderson-Fabry disease. Am J Cardiol 2013;111(1):111-17
- Feriozzi S, Germain DP, Di Vito R, Cystatin C as a marker of early changes of renal function in Fabry nephropathy. J Nephrol 2007;20(4):437-43
- Torralba-Cabeza MA, Olivera S, Hughes DA, Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease. Mol Genet Metab 2011;104:301-3
- Mehta A, West ML, Pintos-Morell G, Therapeutic goals in the treatment of Fabry disease. Genet Med 2010;12:713-20
- Whybra C, Kampmann C, Krummenauer F, The Mainz severity score index: a new instrument for quantifying the Anderson-Fabry disease phenotype and the response of patients to enzyme replacement therapy. Clin Genet 2004;65:299-307
- Hughes DA, Ramaswami U, Barba-Romero M-A, Age adjusting severity score for Anderson-Fabry disease. Mol Genet Metab 2010;101:219-27
- Giannini EH, Mehta AB, Hilz MJ, A validated disease severity scoring system for Fabry disease. Mol Genet Metab 2010;99:283-90
- Hughes DA, Malmenas M, Deegan PB. Fabry international prognostic index: a predictive severity score for Anderson-Fabry disease. J Med Genet 2012;49:212-20
- Schaefer RM, Mehta A and Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatrica 2005;94(Suppl 447):87-92
- 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;94:1602-5
- 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):739-44
- Biegstraaten M, Hollak CE, Bakkers M, Small fiber neuropathy in Fabry disease. Mol Genet Metab 2012;106:135-41
- Ramaswami U, Hendricksz C, Wijburg F, Trigger for initiating enzyme replacement therapy (ERT) treatment in children with Fabry disease. J Inherit Metab Dis 2010;33(Suppl 1):S150; 480P
- Wilcox WR, Linthorst GE, Germain DP, Anti-alpha-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry. Mol Genet Metab 2012;105:443-9
- Deegan PB. Fabry disease, enzyme replacement therapy and the significance of antibody responses. J Inherit Metab Dis 2012;35:227-43
- Warnock DG, Ortiz A, Mauer M, Fabry Registry. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012;27(3):1042-9
- Feriozzi S, Torras J, Cybulla M, The effectiveness of long-term agalsidase alpha therapy in the treatment of Fabry nephropathy. Clin J Am Soc Nephrol 2012;7(1):60-9
- Tøndel C, Bostad L, Larsen KK, Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 2013;24(1):137-48
- Mills K, Vellodi A, Morris P, Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr 2004;163:595-603
- Burlina AP, Sims KB, Politei JM, Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol 2011;11:61
- Wu X, Katz E, Della Valle C. A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Hum Mutat 2011;2:965-77
- Benjamin ER, Khanna R, Schilling A, Co-administration with the pharmacological chaperone AT1001 increases recombinant human alpha-galactosidase A tissue uptake and improves substrate reduction in Fabry mice. Mol Ther 2012;20(4):717-26