Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.

Abstract excerpt

Gaucher disease (GD) is the most frequently encountered lysosomal storage disease, caused by autosomal recessive inborn defects in the glucocerebrosidase gene (GBA) at 1q21. The disease is most common in the Ashkenazi Jewish population. GD can present with a vast phenotypic heterogeneity, which can be predicted to some extent from the underlying mutation. In this report, we describe a Lebanese Arab family with...

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