Gaucher Disease Type I: A Case Report

1. Fateen E, Abdallah ZY. Twenty-five years of biochemical diagnosis of Gaucher disease: the Egyptian experience. Heliyon, 2019, 5(10):e02574.10.1016/j.heliyon.2019.e02574683895131720445Search in Google Scholar

2. Ruchlemer R MM, Zimran A. Gaucher disease, myelodys-plastic syndrome and ICUS. Blood Cells Mol Dis., 2020, 80(102373).10.1016/j.bcmd.2019.10237331718920Search in Google Scholar

3. Pernick, N. Bone marrow – nonneoplastic systemic disorders. Gaucher disease. Pathology Outlines, 2019.Search in Google Scholar

4. Beutler E, Demina A, Gelbart T. Glucocerebrosidase mutations in Gaucher disease. Mol Med, 1994, 1(1):82-92.10.1007/BF03403534Search in Google Scholar

5. Beutler E. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci U S A, 1993, 90(12):5384-90.10.1073/pnas.90.12.5384467248516282Search in Google Scholar

6. Beutler E, Gelbart T. Gaucher disease mutations in non-Jewish patients. Br J Haematol, 1993., 85(2):401-5.10.1111/j.1365-2141.1993.tb03185.x8280613Search in Google Scholar

7. Riboldi G, Di Fonzo AB. Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches. Cells, 2019, 8(4), 364. doi: 10.3390/cells8040364.10.3390/cells8040364652329631010158Search in Google Scholar

8. Anheim M, Elbaz A, Lesage S et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology, 2012, 78(6):417-20.10.1212/WNL.0b013e318245f47622282650Search in Google Scholar

9. McNeill A, Duran R, Proukakis C et al. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord, 2012, 27(4):526-32.10.1002/mds.24945418838722344629Search in Google Scholar

10. Bultron G, Kacena K, Pearson D et al. The risk of Parkinson‘s disease in type 1 Gaucher disease. J Inherit Metab Dis, 2010. 33(2):167-73.10.1007/s10545-010-9055-0288730320177787Search in Google Scholar