Malattia di Fabry

  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

Malattia di Gaucher

  1. Mistry PK. et al. Consensus Conference: A reappraisal of Gaucher disease diagnosis and disease management algorithms. Am J Hematol 2011; 86(1):110-5.
  2. Mucci JM. et al. Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System. J. Immunal Res 2015; 2015:192761.
  3. Cassinerio E. et al. La malattia di Gaucher: una malattia di interesse internistico. Medicina Italia Numero 3/08.
  4. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics: Targets & Therapy 2010; 4:299-313.


  1. Neufeld EF and Muenzer J. The Mucopolysaccharidoses. In The Metabolic and Molecular Bases of Inherited Disease, 8th edition. Edited by CR Scriver, AL Beaudet, D Valle et al. New York. McGraw Hill Book Company 2001, 3421-3452.
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