Identification of Some Mutations Responsibles for Infantile Gaucher Disease in Syria
published by Damascus University
in 2009
in
and research's language is
العربية
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Abstract in English
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