Gaucher's disease is a lysosomal storage disorder due to a genetically transmitted
deficiency of the enzyme glucocerebrosidase. In the most common form of the disease (type …

Purpose No imaging technique has been found to be adequate to assess the severity and
extent of bone involvement in patients with Gaucher disease. Marrow involvement, as …

Gaucher disease is the most prevalent inherited, lysosomal storage disease and is caused
by deficient activity of the enzyme β-glucocerebrosidase. Bone and bone marrow alterations …

OBJECTIVE. MRI and 99mTc-sestamibi scintigraphy are used to estimate bone marrow
infiltration in patients with Gaucher disease (GD), but comparison of data obtained at …

Gaucher's disease is an autosomal recessive lysosomal storage disease characterized by
the specific deficiency of glucocerebrosidase that leads to accumulation of insoluble …

The clinical, pathological and radiological manifestations of type 1 Gaucher disease and the
role of imaging techniques such as CT, MRI and sulfur-colloid scintigraphy in the …

The effectiveness of CT and technetium-99m sulfur colloid (99mTc SC) bone-marrow scans
in determining the extent and severity of skeletal involvement in 23 patients with type 1 …

Gaucher disease is the prototypical lysosomal storage disease. It results from the
accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone …

A series of plain radiographs, bone scans, bone marrow scans, and MRIs is reported in a
patient with Gaucher disease type I, in whom two episodes of acute bone crisis developed …

Purpose To study the long-term evolution of the bone marrow burden (BMB) score at MRI in
patients with Gaucher disease (GD) under enzyme replacement therapy (ERT). Material and …