Bibliografia

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.

Mucopolisaccaridosi

  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.
Contact Us

We're not around right now. But you can send us an email and we'll get back to you, asap.

Not readable? Change text.

Start typing and press Enter to search