dc.contributor.author | ROTARU, Ludmila | |
dc.contributor.author | SIDORENKO, Ludmila | |
dc.date.accessioned | 2024-04-26T09:18:02Z | |
dc.date.available | 2024-04-26T09:18:02Z | |
dc.date.issued | 2024 | |
dc.identifier.citation | ROTARU, Ludmila, SIDORENKO, Ludmila. The approach of molecular medicine to the treatment of Gaucher disease. In: Quo Vadis – Ethics of the Scientific Research: conf. NANO-2024, event devoted to the 60th anniversary of the Technical University of Moldova, 15-18 April 2024, Chişinău, Republica Moldova: Program and proceedings of the conference, Chişinău 2024, pp. 96-97. ISBN 978-9975-64-422-8. | en_US |
dc.identifier.isbn | 978-9975-64-422-8 | |
dc.identifier.uri | http://repository.utm.md/handle/5014/26950 | |
dc.description.abstract | Gaucher disease presents a metabolic rare disease with the autosomal recessive transmission. The cause of this monogenic disease is the mutation of the gene GBA. As a consequence of this mutation, a deficiency of synthesis of the enzyme β- gucocerebrosidase occurs. As a result, glucocerebrosides accumulate throughout the body, especially in the bone marrow, spleen and liver. Three different forms of Gaucher disease have been determined, distinguished by the absence or presence and extent of neurological complications. Currently, five therapies for the treatment of Gaucher disease are described. This review study provides the most recent information on the therapies approved for the treatment of the disease. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Technical University of Moldova | en_US |
dc.relation.ispartofseries | NANO-2024 "Quo Vadis – Ethics of the Scientific Research", event devoted to the 60th anniversary of the Technical University of Moldova;15-18 April 2024, Chişinău, Republica Moldova | |
dc.rights | Attribution-NonCommercial-NoDerivs 3.0 United States | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/us/ | * |
dc.subject | Gaucher disease | en_US |
dc.subject | metabolic disease | en_US |
dc.subject | autosomal recessive transmission | en_US |
dc.title | The approach of molecular medicine to the treatment of Gaucher disease | en_US |
dc.type | Article | en_US |
The following license files are associated with this item: