...Sabrina Mariani; Giovanna Palumbo; Luisa Cardarelli; Michelina Santopietro; Robin Foà; Fiorina Giona Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting...

... Key Words. Pyruvate kinase Glucose-6-phosphate dehydrogenase Triose phosphate isomerase Gaucher disease -Glucocerebrosidase Recently a colleague from Mexico sent a glucose6-phosphate dehydrogenase (G6PD)-deficient blood sample to our laboratory for characterization of the residual enzyme. He...

...D. Glenn; D. Thurston; P. Garver; E. Beutler Comparison is made between the reliability of two imaging methods (ultrasound and magnetic resonance imaging) to measure changes in the size of the liver in patients undergoing treatment for Gaucher disease. The reliability of either modality...

...Altoon Dweck; Dorit Blickstein; Deborah Elstein; Ari Zimran We describe a patient with an intact spleen and moderately severe symptoms of Gaucher disease in whom, after initiation of (low-dose) enzyme replacement therapy (ERT), thrombocytosis (720 × 10 9 /l) was documented. Checking...

...Ernest Beutler; Howard Liebman; Terri Gelbart; Ellen Stefanski As Gaucher disease is an autosomal recessive disorder, most patients are either homozygotes or compound heterozygotes for glucocerebrosidase mutations. We have encountered a patient with three mutations, two c.1226A→G (1226G, N370S...