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,...

Topics

• DNA Transposable Elements
• Female
• Gaucher Disease
• Glucosylceramidase
• Humans
• Mutation
• Pregnancy
• Pregnancy Complications
• Pregnancy Outcome