TY - JOUR ID - 7307 TI - Report of Four Children with Gaucher Disease and Review of Literature JO - International Journal of Pediatrics JA - IJP LA - en SN - 2345-5047 AU - Maan, Wajiha AU - Karjoo, Manoochehr AU - Beg, Mirza AD - Department of Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Children Hospital, Upstate Medical University, Syracuse, New York, U.S.A. Y1 - 2016 PY - 2016 VL - 4 IS - 8 SP - 2287 EP - 2293 KW - Children KW - case report KW - Gaucher disease KW - Lysosomal storage diseases DO - 10.22038/ijp.2016.7307 N2 - Gaucher Disease (GD) is the most common type of Lysosomal Storage Disorder and it is divided into three distinct subtypes. The authors here report four different cases of Gaucher Disease, with varying clinical manifestations, and the diagnosis of each established by the low level of Beta-Glucosidase enzyme as well as genetic DNA testing. The study also highlights the importance of early diagnosis of the disease in order to initiate the appropriate therapeutic management to help prevent further progression of the disease. UR - https://ijp.mums.ac.ir/article_7307.html L1 - https://ijp.mums.ac.ir/article_7307_2840eca42262c5930dcf11661a6b00ec.pdf ER -