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- W2134757426 abstract "Objective: To review the epidemiology, pathophysiology, and treatments of Gaucher disease (GD), focusing on the role of enzyme replacement therapy (ERT), andsubstrate reduction therapy (SRT). Data Sources: A literature search through PubMed (1984-May 2013) of English language articles was performed with terms: Gaucher’s disease, lysosomal storage disease. Secondary and tertiary references were obtained by reviewing related articles. Study Selection and Data Extraction: All articles in English identified from the data sources, clinical studies using ERT, SRT and articles containing other interesting aspects were included. Data Synthesis: GD is the most common inherited LSD, characterized by a deficiency in the activity of the enzyme acid β-glucosidase, which leads to accumulation of glucocerebroside within lysosomes of macrophages, leading to hepatosplenomegaly, bone marrow suppression, and bone lesions. GD is classified into 3 types: type 1 GD (GD1) is chronic and non-neuronopathic, accounting for 95% of GDs, and types 2 and 3 (GD2, GD3) cause nerve cell destruction. Regular monitoring of enzyme chitotriosidase and pulmonary and activation-regulated chemokines are useful to confirm the diagnosis and effectiveness of GD treatment. Conclusions: There are 4 treatments available for GD1: 3 ERTs and 1 SRT. Miglustat, an SRT, is approved for mild to moderate GD1. ERTs are available for moderate to severe GD1 and can improve quality of life within the first year of treatment. The newest ERT, taliglucerase alfa, is plant-cell derived that can be produced on a large scale at lower cost. Eliglustat tartrate, another SRT, is under phase 3 clinical trials. No drugs have been approved for GD2 or GD3." @default.
- W2134757426 created "2016-06-24" @default.
- W2134757426 creator A5028563264 @default.
- W2134757426 creator A5073018865 @default.
- W2134757426 date "2013-09-01" @default.
- W2134757426 modified "2023-10-15" @default.
- W2134757426 title "Gaucher Disease and Its Treatment Options" @default.
- W2134757426 cites W1568609804 @default.
- W2134757426 cites W1592147357 @default.
- W2134757426 cites W1593780294 @default.
- W2134757426 cites W1758125525 @default.
- W2134757426 cites W177618465 @default.
- W2134757426 cites W1970279057 @default.
- W2134757426 cites W1981725999 @default.
- W2134757426 cites W1985723103 @default.
- W2134757426 cites W1987594377 @default.
- W2134757426 cites W1988253322 @default.
- W2134757426 cites W1991078747 @default.
- W2134757426 cites W1991435307 @default.
- W2134757426 cites W1991763259 @default.
- W2134757426 cites W1991890638 @default.
- W2134757426 cites W1992253341 @default.
- W2134757426 cites W1996107840 @default.
- W2134757426 cites W2000967617 @default.
- W2134757426 cites W2002571030 @default.
- W2134757426 cites W2007763390 @default.
- W2134757426 cites W2010209464 @default.
- W2134757426 cites W2011280194 @default.
- W2134757426 cites W2013943044 @default.
- W2134757426 cites W2016845221 @default.
- W2134757426 cites W2017112394 @default.
- W2134757426 cites W2018213221 @default.
- W2134757426 cites W2018855422 @default.
- W2134757426 cites W2019577228 @default.
- W2134757426 cites W2020887709 @default.
- W2134757426 cites W2021066062 @default.
- W2134757426 cites W2026948475 @default.
- W2134757426 cites W2027459860 @default.
- W2134757426 cites W2028377819 @default.
- W2134757426 cites W2032315776 @default.
- W2134757426 cites W2033451896 @default.
- W2134757426 cites W2035566737 @default.
- W2134757426 cites W2044408312 @default.
- W2134757426 cites W2050917853 @default.
- W2134757426 cites W2056498322 @default.
- W2134757426 cites W2057028178 @default.
- W2134757426 cites W2067584665 @default.
- W2134757426 cites W2072066672 @default.
- W2134757426 cites W2072550019 @default.
- W2134757426 cites W2073607731 @default.
- W2134757426 cites W2076584038 @default.
- W2134757426 cites W2076585244 @default.
- W2134757426 cites W2077531458 @default.
- W2134757426 cites W2079133058 @default.
- W2134757426 cites W2086663807 @default.
- W2134757426 cites W2088638526 @default.
- W2134757426 cites W2092973270 @default.
- W2134757426 cites W2093615454 @default.
- W2134757426 cites W2095042627 @default.
- W2134757426 cites W2095313918 @default.
- W2134757426 cites W2096739914 @default.
- W2134757426 cites W2097813811 @default.
- W2134757426 cites W2097972170 @default.
- W2134757426 cites W2099293163 @default.
- W2134757426 cites W2103986567 @default.
- W2134757426 cites W2108328688 @default.
- W2134757426 cites W2111355988 @default.
- W2134757426 cites W2114362599 @default.
- W2134757426 cites W2115871259 @default.
- W2134757426 cites W2116313758 @default.
- W2134757426 cites W2121349299 @default.
- W2134757426 cites W2124697531 @default.
- W2134757426 cites W2131917762 @default.
- W2134757426 cites W2133288647 @default.
- W2134757426 cites W2138294741 @default.
- W2134757426 cites W2140984295 @default.
- W2134757426 cites W2141981005 @default.
- W2134757426 cites W2142115754 @default.
- W2134757426 cites W2144387904 @default.
- W2134757426 cites W2144456776 @default.
- W2134757426 cites W2146298104 @default.
- W2134757426 cites W2161577092 @default.
- W2134757426 cites W2166859453 @default.
- W2134757426 cites W2168784140 @default.
- W2134757426 cites W2322128806 @default.
- W2134757426 cites W2325696847 @default.
- W2134757426 cites W2334181337 @default.
- W2134757426 cites W4245498107 @default.
- W2134757426 cites W4322703288 @default.
- W2134757426 cites W8192888 @default.
- W2134757426 doi "https://doi.org/10.1177/1060028013500469" @default.
- W2134757426 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24259734" @default.
- W2134757426 hasPublicationYear "2013" @default.
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