Bibliografia

  1. Cassinerio E. et al. La malattia di Gaucher: una malattia rara di interesse internistico. Medicina Italia Numero 3/08.
  2. Mistry PK, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86:110-5.
  3. Kaplan P. et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr (2013) 172: 447-458
  4. Khan A, Hangartner T, Weinreb NJ, et al. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry. J Bone Miner Res. 2012;27:1839-48.
  5. Charrow J et al. The Gaucher Registry – Demographics and Disease Characteristics of 1698 Patients With Gaucher Disease – Arch Intern Med Vol 160, Oct 9, 2000: 2835-43
  6. Rosenbloom BE, Weinreb NJ. Gaucher Disease: A Comprehensive Review. Crit Rev Oncog. 2013;18(3):163-75.
  7. Shoshana Revel-Vilk, Jeff Szer, Atul Mehta and Ari Zimran. How we manage Gaucher Disease in the era of choices. BJH Review (2018)
  8. Arends M, et al. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br J Haematol. 2013;161:832-42.
  9. Mistry PK, et al. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab. 2002;77:91-8.
  10. Wang RY, et al. Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011;13(5):457-84.
  11. Burrot TA. et al. Prevalence and management of Gaucher Disease.Pediatric Health, Medicine and Therapeutics. Dovepress (2011)
  12. Kerem E. et al. Pulmonary function abnormalities in type I Gaucher disease, Eur J Pediatr (1996) 9: 340-345
  13. HAS Santé guide for doctors: Long term conditions (January 2007) Gaucher disease – National Diagnosis and Treatment Protocol, 2007: 1-45

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