From Symptoms and Signs to Diagnosis in a Rare Disease, Type I Gaucher Disease

1. Futerman AH, Sussman JH, Horowitz N et al. 2004. New directions in the treatment of Gaucher disease. Trends Pharmacological Sci. 25, 147-151;10.1016/j.tips.2004.01.004Search in Google Scholar

2. Grabowski G, Leslie N, et al.: Enzyme therapy for Gaucher disease: the first 5 years. Blood Reviews, 1998; 12: 115-133.10.1016/S0268-960X(98)90023-6Open DOISearch in Google Scholar

3. Mistry PK, Sadan S, Yang R et al. 2007. Consequences of diagnostic delay in type 1 Gaucher disease: The need for greater awareness among Haematologists-Oncologists and an opportunity for early diagnosis and intervention. American Journal of Haematology. 697-70110.1002/ajh.20908Search in Google Scholar

4. Cox TM, Lachmann R, Hollak CE et al. 2000. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis. Lancet. 355; 1481-1485;10.1016/S0140-6736(00)02161-9Search in Google Scholar

5. Zimran A, Altarescu G, Rudensky B, Abrahamov A. 2005. Survey of haematological aspects of Gaucher disease. Haematology, 10, 151-156;10.1080/10245330500067181Search in Google Scholar

6. Deegan P, Pavlova E, Tindall J et al. 2011. Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy.Medicine, 90, 52-60;10.1097/MD.0b013e3182057be4Open DOISearch in Google Scholar

7. Wenstrup RJ, Roca-Espiau M, Weinreb N et al. 2002. Skeletal aspects of Gaucher disease: A review. Br J Radiol. 75(Suppl 1): A2-12;10.1259/bjr.75.suppl_1.750002Open DOISearch in Google Scholar

8. Guggenbuhl et al.2008 Gaucher Disease. Joint Bone Spine 75, 116-124;10.1016/j.jbspin.2007.06.006Search in Google Scholar

9. Rose JS, Grabowski GA, Barnett SH, Desnick RJ. 1982. Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. AmJ Roentgenol. 139; 1202-1204;10.2214/ajr.139.6.1202Search in Google Scholar

10. Grabowski, GA. Gaucher disease: Lessons from a decade of therapy. J Pediatr, 144(5, Suppl), S15-S19);10.1016/j.jpeds.2004.01.050Search in Google Scholar

11. Weinreb NJ, Charrow J, Anderson HC et al.2002. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment. A report from the Gaucher registry. Am J Med. 113, 112-119.10.1016/S0002-9343(02)01150-6Search in Google Scholar