Two Sisters with Gaucher Disease: Focus on the Effectiveness of Imiglucerase Treatment: Case Reports
Mehmet Celik, Semra Ayturk, Mustafa Yilmaztepe, Ahmet Kucukarda, Onur Mert, Sibel Guldiken, Ahmet Muzaffer Demir & Armagan Tugrul · Journal of Advances in Medicine and Medical Research · 2016
Gaucher disease is an autosomal recessive lysosomal storage disease caused by beta glucocerebrosidase enzyme deficiency leading glucosylceramide deposition in reticuloendothelial system (RES) cells. Gaucher cell loaded by glucosylceramide usually infiltrates bone marrow, liver, s...
Open access
Research Article
10.9734/BJMMR/2016/26343