Gaucher disease in Syrian children: common mutations identification and clinical futures

BACKGROUND AND OBJECTIVES: Gaucher disease (GD) is caused by the deficiency of glucosidase beta acid (GBA). Three clinical forms of GD are available. Some mutations in the GBA gene have a high frequency in specific populations. The aim of this study was to analyze the characteristics of phenotypes a...

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Bibliographic Details
Main Author: Diana Alasmar
Format: Article
Language:English
Published: King Faisal Specialist Hospital and Research Centre 2015-03-01
Series:Annals of Saudi Medicine
Online Access:https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2015.127

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