Report of Four Children with Gaucher Disease and Review of Literature

Maan, Wajiha and Karjoo, Manoochehr and Beg, Mirza (2016) Report of Four Children with Gaucher Disease and Review of Literature. International Journal of Pediatrics, 4 (8). pp. 2287-2293.

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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.

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 26 Sep 2017 14:08
Last Modified: 26 Sep 2017 14:08
URI: http://eprints.mums.ac.ir/id/eprint/4541

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