These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
Pubmed for Handhelds
PUBMED FOR HANDHELDS
Search MEDLINE/PubMed
Title: [Gaucher disease]. Author: Ohashi T. Journal: Nihon Rinsho; 1995 Dec; 53(12):2943-6. PubMed ID: 8577040. Abstract: Gaucher disease is an inherited metabolic disease characterized by deficient activity of lysosomal enzyme, known as a glucocerebrosidase. Three clinical phenotype were documented depends on the onset of disease and neuronal involvement. Deficient activity of glucocerebrosidase results in progressive accumulation of glucocerebroside mainly in bone marrow derived macrophages. Diagnosis was made based on enzymatic activity in various tissue including WBC and fibroblasts. Molecular diagnosis was also possible. However, it is difficult to differentiate the three phenotypes. Although bone marrow transplantation and enzyme infusion therapy are both effective, the inherent problems limits their application. Gene therapy based on transfer of the therapeutic gene to hematopoietic stem cells were started in this year in USA.[Abstract] [Full Text] [Related] [New Search]