B E Rosenbloom

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BACKGROUND The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of the disorder and determine optimal therapy. This report describes the demographic and clinical characteristics of 1698 patients with GD before they received enzyme replacement therapy. METHODS(More)
Progressive skeletal disease accounts for some of the most debilitating complications of type 1 Gaucher disease. In this 48-month, prospective, non-randomized, open-label study of the effect of enzyme replacement therapy on bone response, 33 imiglucerase-naïve patients (median age 43 years with one or more skeletal manifestations such as osteopenia, history(More)
Health-related quality of life (HRQOL) can be diminished in patients with type 1 Gaucher disease (GD) owing to the debilitating clinical manifestations of this chronic disease. This study investigates the impact of imiglucerase treatment on HRQOL of patients with type 1 GD and bone involvement. Thirty-two previously untreated type 1 GD patients with(More)
Gaucher disease is the most common lysosomal storage disease and is caused by a deficiency of glucocerebrosidase. It is typically considered an adult disorder, manifest with hematologic changes and bone fractures. The five most common genotypes, consisting of 570 patients, were selected from the ICGG Registry (2000+ patients) and stratified according to(More)
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