A case report about two sisters in Brazil with Gaucher type 1 disease (GD1) and severe bone disease represents a new genetic profile, researchers say. Although the uncommon genetic alterations have been reported previously, researchers suggest these are the first known GD patients with this combination of two mutations.
Persistent high levels of iron in patients with Gaucher disease who are receiving maintenance therapy are associated with residual Gaucher disease. This finding was reported in the study “Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment” that…
Researchers at the Academic Medical Center Amsterdam in the Netherlands conducted a study with the aim of providing insight on the pathophysiological implications of iron accumulation in patients with Gaucher disease (GD). The study, “Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications,” published in…
