References

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Overview of Fabry disease

  1. Meikle, PJ et al. JAMA 1999;28:249–54
  2. Mehta A et al. Eur J Clin Invest 2004;34:236–42
  3. Germain DP. Orphanet J Rare Dis 2010;5:30
  4. Gal A et al. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006;Chapter 33
  5. Brady RO et al. N Engl J Med 1967;276:1163–7
  6. Schäfer E et al. Hum Mutat 2005;25:412
  7. Lemansky P et al. J Biol Chem. 1987;262:2062–5
  8. Kolter T, Sandhoff K. Biochim Biophys Acta 2006;1758:2057–79
  9. Desnick RJ. In: Scriver, CR et al. editors. The Metabolic and Molecular Basis of Inherited Disease. 8th edition, New York: McGraw-Hill;2001;3733-74
  10. Hagège AA. Heart 2011;97:131–6

Epidemiology

  1. Meikle PJ et al. JAMA 1999; 281:249–54
  2. Fuller M et al. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006;Chapter 2
  3. Spada M et al. Am J Hum Genet 2006;79:31–40
  4. Laney DA, Fernhoff PM J Genet Couns 2008;7:79–83
  5. Rolfs A et al. Lancet 2005;366:1794–6
  6. Rolfs A et al. Stroke 2013;44:340–9
  7. Hagége AA. Heart 2011;97:131–6

Genetic cause

  1. Openstax College, Rice University. Biology (2013). ISBN-10 1938168399; ISBN-13; 978-1-938168-39-0; Revision C-1-000-DW. Available from: https://openstax.org/
  2. Schäfer E et al. Hum Mutat 2005;25:412
  3. Barba-Romero M-Á et al. Int J Clin Pract 2011;65:903–10
  4. Human Gene Mutation Database. Available from: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GLA [Accessed 19 October 2016]
  5. Smid BE et al. J Med Genet 2015;52:262–8
  6. Gal A et al. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006;Chapter 33

X-linked inheritance

  1. Germain DP. Orphanet J Rare Dis 2010;5:30
  2. Deegan P et al. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd;2006;Chapter 30
  3. Germain DP. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd;2006;Chapter 7
  4. Thanamayooran S et al. Acta Paediatrica 2003;92(Suppl 443):108–9

Symptoms

Symptoms overview

  1. Germain DP. Orphanet J Rare Dis 2010;5:30
  2. Mehta A et al. Eur J Clin Invest 2004;34:236–42
  3. Eng CM et al. Genet Med 2006;8:539–48
  4. Spada M et al. Am J Hum Genet 2006;79:31–40
  5. Desnick RJ. In: Scriver, CR et al. editors. The Metabolic and Molecular Basis of Inherited Disease. 8th edition, New York: McGraw-Hill;2001;3733-74
  6. Eng CM et al. J Inherit Metab Dis 2007;30:184–92
  7. Macdermot KD et al. J Med Genet 2001;38:750–60
  8. Zarate YA, Hopkin RJ. Lancet 2008;372:1427–35
  9. Lidove O et al. Genet Med 2010;12:668–79
  10. Barba-Romero M-Á et al. Int J Clin Pract 2011;65:903–10
  11. Macdermot KD et al. J Med Genet 2001;38:769–75
  12. Schiffmann R et al. Nephrol Dial Transplant 2009;24:2102–11
  13. Golfomitsos C et al. Br J Cardiol 2012;19:41–5

Cardiac

  1. Linhart A. In: Mehta A et al., editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 20
  2. Mehta A et al. J Med Genet 2009; 46:548–52
  3. Mehta A. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 19
  4. Kampmann C et al. Acta Paediatr 2008;97:463–9
  5. Schiffmann R et al. Nephrol Dial Transplant 2009;24:2102–11
  6. Eng CM et al. Genet Med 2006;8:539–48
  7. Macdermot KD et al. J Med Genet 2001;38:750–60
  8. Von Scheidt W et al. N Engl J Med 1991;324:395–9
  9. Linhart A et al. Eur Heart J 2007;28:1228–35
  10. Elliot PM et al. Eur Heart J 2014:35;2733–79

Renal

  1. Mehta A. In: Mehta A et al. editors. Fabry disease: perspectives from5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 19
  2. Macdermot KD et al. J Med Genet 2001;38:769–75
  3. Schiffmann R et al. Nephrol Dial Transplant 2009;24:2102–11
  4. Sunder-Plassmann G. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 21
  5. National Kidney Foundation. KDOQI Guidelines. Available from: http://www2.kidney.org/professionals/KDOQI/guidelines_ckd/p4_class_g1.htm [Accessed 28 October 2016]
  6. Kidney anatomy. Available from: http://emedicine.medscape.com/article/1948775-overview#a1 [Accessed 28 October 2016]
  7. National Institute of Diabetes and Digestive and Kidney Diseases. Your kidneys and how they work. Available from: https://www.niddk.nih.gov/health-information/health-topics/Anatomy/kidneys-how-they-work/Pages/anatomy.aspx#kidneys [Accessed 28 October 2016]
  8. National Kidney Foundation. Am J Kidney Dis 2002;39:1–266
  9. Ries M, et al. Kidney Int.2004;66:978-982

Neurological

  1. Schiffmann R, Moore D. In Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 22
  2. Zarate YA, Hopkin RJ. Lancet 2008;372:1427–35
  3. Rolfs A et al. Stroke 2013;44:340–9
  4. Rolfs A et al. Lancet 2005;366:1794–6
  5. Germain DP. Orphanet J Rare Dis 2010;5:30
  6. Ginsberg L et al. Acta Paediatr Suppl 2006;95:57–62
  7. Mitsias P, Levine SR. Ann Neurol 1996;40:8–17
  8. Ginsberg L. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 23
  9. Macdermot KD et al. J Med Genet 2001;38:750–60
  10. Ries M et al. Eur J Pediatr 2003;162:767–72
  11. Mehta A. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 19
  12. Macdermot KD et al. J Med Genet 2001;38:769–75
  13. Schiffmann R, Moore D in Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd, 2006; Chapter 22.

Diagnosis

Diagnosis overview

  1. Mehta A et al. Eur J Clin Invest 2004;34:236–42
  2. Beck M. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 16
  3. Gupta S et al. Medicine (Baltimore) 2005;84:261–8
  4. Deegan PB et al. J Med Genet 2006;43:347–52

Establishing a diagnosis

  1. Mehta A. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 19
  2. Linhart A. In: Mehta A et al., editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 20
  3. Sodi A. In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 26

Confirming a diagnosis

  1. Hoffmann B. Orphanet J Rare Dis 2009;4:21
  2. Winchester B, Young E In: Mehta A et al. editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 18
  3. Mehta A et al. Genet Med 2010;12:713–20
  4. Gal A et al. J Inherit Metab Dis 2011;34:509–14

Screening populations

  1. Germain PG. Orphanet J Rare Dis 2010;5:30
  2. Mehta A et al. J Med Genet 2009;46:548–52
  3. Elliot PM et al. Eur Heart J 2014:35;2733–79
  4. Gaspar P et al. BMC Med Genet 2010;11:19–26
  5. Oqvist N et al. Nephrol Dial Transplant 2009;24:1736–43
  6. Herrera J et al. Clin Nephrol 2014;81:112–20
  7. Doi K et al. J Human Genet 2012;57:575–79
  8. De Schoenmakere G et al. Nephrol Dial Transplant 2008;23:4044–48
  9. Kleinert J et al. Transpl Int 2009;22:287–292
  10. Golfomitsos C et al. Br J Cardiol 2012;19:41–5
  11. Hoffmann B, Mayatepe KE. Dtsch Arztebl Int 2009;106:440–7
  12. Desnick RJ et al. Ann Intern Med 2003;138:338–46
  13. Rolfs A et al. Stroke 2013;44:340–9
  14. Rolfs A et al. Lancet 2005;366:1794–6
  15. Beck M. In: Mehta A et al. Editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd;2006; Chapter 16
  16. Gal A et al. J Inherit Metab Dis 2011;43:509–14
  17. Baptista MV et al. Stroke 2010;41:431–6

Importance of early diagnosis

  1. Mehta A et al. Q J Med 2010;103:641–59
  2. Germain DP. Orphanet J Rare Dis 2010;5:30
  3. Laney DA, Fernhoff PM. J Genet Couns 2008;17:79–83
  4. Mehta A et al. Eur J Clin Invest 2004;34:236–42
  5. Gupta S et al. Medicine (Baltimore) 2005;84:261–8
  6. Macdermot KD et al. J Med Genet 2001;38:750–60
  7. Macdermot KD et al. J Med Genet 2001;38:769–75
  8. Golfomitsos C et al. Br J Cardiol 2012;19:41–5

Misdiagnosis

  1. Hoffmann B, Mayatepek E. Dtsch Arztebl Int 2009;106:440–7
  2. Mehta A et al. Eur J Clin Invest 2004;34:236–42

Management

Management overview

  1. Laney DA et al. J Genet Couns 2013;22:555–64

Pedigree

  1. Laney DA, Fernhoff PM. J Genet Couns 2008;17:79–83
  2. Gal A et al. J Inherit Metab Dis 2011;34:509–14
  3. Adapted from materials courtesy of Dr O Goker-Alpan, LSD Research and Treatment Unit, CFCT, O&O Alpan LLC, Fairfax, US
  4. Adapted from materials courtesy of Prof R Giugliani, Clinic Hospital of Porto Alegre, Rio Grande do Sul, Brazil
  5. Adapted from materials courtesy of Dr N Karabul, Children’s Hospital of Johannes Gutenberg Universitätsmedizin, Mainz, Germany

Genetic counselling

  1. Laney DA, Fernhoff PM. J Genet Counsel 2008;17:79–83
  2. Laney DA et al. J Genet Couns 2013;22:555–64

Enzyme replacement therapy

  1. El Dib et al. Cochrane Database Syst Rev 2016;7:CD006663
  2. Germain DP. Orphanet J Rare Dis 2010;5:30
  3. Schiffmann R et al. JAMA 2001;285:2743–9
  4. Schiffmann R et al. Nephrol Dial Transplant 2006;21:345−54

Chaperone therapy

  1. Yam GH et al. FASEB J 2005;19:12−8
  2. Ishii S et al. Biochem J 2007;406:285–95
  3. Guce AI et al. Chem Biol 2011;18:1521−6
  4. Markham. Drugs 2016;76:1147–52−54

Symptomatic treatment

  1. Hughes D et al. In: Mehta A et al. Editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd; 2006; Chapter 35

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