Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase,
leads to prominent glucosylceramide accumulation in lysosomes of tissue macrophages (…

Gaucher disease is an autosomal, recessively inherited, lysosomal storage disease, which
has been associated with gammopathies and malignancies. This report represents the …

Gaucher disease is the first lysosomal disorder for which clinically effective enzyme replacement
therapy has been introduced. Lifelong treatment with imiglucerase, the recombinant …

Bone marrow fat, an unique component of the bone marrow cavity increases with aging and
menopause and is inversely related to bone mass. Sex steroids may be involved in the …

Long term liver-related complications of type-1 Gaucher disease (GD), a lysosomal storage
disorder, include fibrosis and an increased incidence of hepatocellular carcinoma. …

Objective To evaluate the cost-effectiveness of enzyme replacement therapy (ERT) compared
to standard medical care without ERT in the Dutch cohort of patients with type 1 Gaucher …

Gaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological
malignancies, the development of solid tumors in several organs has been described…

The characteristics of Gaucher disease ( GD ) associated with persistent thrombocytopenia
despite imiglucerase enzyme therapy in type 1 GD ( GD 1) were investigated by retrospective …

Long-term complications and associated conditions of type 1 Gaucher Disease (GD) can
include splenectomy, bone complications, pulmonary hypertension, Parkinson disease and …

Aims While mexiletine has been used for over 40 years for prevention of (recurrent) ventricular
arrhythmias and for myotonia, patient access has recently been critically endangered. …