The Managing of Gaucher Disease Type 1(GD)
| dc.contributor.author | Almslati, Alaa Alsalmi M. | |
| dc.date.accessioned | 2019-02-27T09:27:35Z | |
| dc.date.available | 2019-02-27T09:27:35Z | |
| dc.date.issued | 2018-04-14 | |
| dc.description | Gaucher disease, the most common lysosomal storage disorder, is caused by the defective activity of the lysosomal enzyme, acid-β-glucosidase (GlcCerase), leading to accumulation of glucosylceramide (GlcCer), particularly in cells of the macrophage lineage. Nearly 200 mutations in GlcCerase have been described, but for the most part, genotype-phenotype correlations are weak, and little is known about the down-stream biochemical changes that occur upon GlcCer accumulation that result in cell and tissue dysfunction. In contrast, the clinical course of Gaucher disease has been well described, and at least one treatment is available, namely enzyme replacement therapy. One other treatment, substrate reduction therapy | en_US |
| dc.description.abstract | Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder that results from loss of function of acid β- glucosidase and there are about 200 mutations in acid- β -glucosidase (GlcCerase) have been described, to manage this disease there are two treatments are available the enzyme replacement therapy (ERT) and the substrate reduction therapy. There are nearly about 3 types of this disease | en_US |
| dc.identifier.uri | http://repository.limu.edu.ly/handle/123456789/590 | |
| dc.language.iso | en | en_US |
| dc.publisher | faculty of Basic Medical Science - Libyan International Medical University | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.title | The Managing of Gaucher Disease Type 1(GD) | en_US |
| dc.type | Other | en_US |