Title of article :
Report of Four Children with Gaucher Disease and Review of Literature
Author/Authors :
Maan, Wajiha Department of Pediatric Gastroenterology - Hepatology and Nutrition - Golisano Children Hospital - Upstate Medical University - Syracuse - New York, U.S.A , Karjoo, Manoochehr Department of Pediatric Gastroenterology - Hepatology and Nutrition - Golisano Children Hospital - Upstate Medical University - Syracuse - New York, U.S.A , Beg, Mirza Department of Pediatric Gastroenterology - Hepatology and Nutrition - Golisano Children Hospital - Upstate Medical University - Syracuse - New York, U.S.A
Abstract :
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.
Keywords :
Children , Case report , Gaucher disease , Lysosomal storage diseases , Case report , Gaucher disease , Lysosomal storage diseases
Journal title :
International Journal of Pediatrics
