Gaucher's disease and pregnancy.

Abstract excerpt

Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, which is required for the lysosomal degradation of glycolipids. The clinical manifestations of the disease show a large heterogeneity, including hepatosplenomegaly, "bone crisis" and fracture, anemia, thrombocytopenia and, in the rarest types II and III, neurological decompensation....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to DNA Transposable Elements
• Share to Gaucher Disease
• Share to Glucosylceramidase