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Register a new userIdentification of Some Mutations Responsibles for Infantile Gaucher Disease in Syria
تعيين بعض الطفرات المسؤولة عند داء غوشر الطفلي في سورية
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علي عجلوني( باحث )
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هدف هذا البحث إلى تشخيص داء غوشر الطفلي عبر البيولوجيا الجزيئية، و معرفة الطفرات الشائعة في عينة من الشعب السوري و مقارنتها بدراسات أخرى. يسلط هذا البحث الضوء على هذا المرض الاستقلابي الوراثي و يهدف إلى إدخال طريقة جديدة للتشخيص فضلاً عن الإجراءات المخبرية المتعارف عليها.
This study aimed to introduce - in our labs - a new method which confirms Gaucher disease, as we don't have the enzyme assay. In addition, We aimed to know the different mutations found in Syrian population and to compare it with other studies. In fact. we think that this the first time that such a study is carried out in Syria.
References used
Margret M. McGovern Robert J. Desnick. LIPIDOSIS. Textebook of pediatrics, NELSON, KLIGMAN, BEHRMAN, JENSON, STANTON, edis. 18 the edition , W.B. saunders company 2008 , 595-597
Ernest Beutler , Gregory A. Grabowski. Gaucher Disease. the metabolic and molecular bases of inherited diseases.Charles R. Scriver, Arthur L. Brandet,William S. Sly, David Valle edis Eighth edition.McGraw Hill. 2001, 3635 -3657
Kaya N, Al- ZAHRANI F, Al- Odaib A : Identification of Gaucher disease mutations found in Arabia Saudi , blood cells Mol Dis. 2008 Sep-Oct;41(2):200-1
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