Recent clinical progress in Gaucher disease

Abstract excerpt

PURPOSE OF REVIEW: Major clinical advances in Gaucher disease focus on detection, prediction and treatment of variant phenotypes. RECENT FINDINGS: The advent of efficacious enzyme therapy has emphasized the importance of early diagnosis and intervention to prevent the morbid manifestations of the disease including organomegaly, growth and pubertal retardation, and osteopenia/osteoporosis. Genotype/phenotype...

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