Matches in SemOpenAlex for { <https://semopenalex.org/work/W2616301251> ?p ?o ?g. }
- W2616301251 endingPage "109" @default.
- W2616301251 startingPage "103" @default.
- W2616301251 abstract "Abstract Gaucher disease is the most common lysosomal storage disease. It is caused by a deficiency in the lysosomal enzyme glucocerebrosidase, a β‐glucosidase, which results in the accumulation of the lipid glucocerebroside in macrophages throughout the body. Gaucher disease is most common in the Ashkenazi Jewish population, and three mutations of the gene encoding glucocerebrosidase ( GBA ) have been shown to be prevalent in this population (c.1226 A > C [N370S], 84GG and IVS2[+1]). In non‐Jewish patients, the most common mutation is c.1448 G > C (L444P). Until 15 years ago, treatment has been restricted to symptomatic interventions, such as splenectomy or hip replacement. However, there are now specific treatment options – enzyme replacement therapy and substrate reduction therapy. Future developments may include the use of chaperone therapy. Conclusion: The lessons that we have learned from Gaucher disease may well be applicable to the development of therapies for some of the other less common lysosomal storage diseases." @default.
- W2616301251 created "2017-05-26" @default.
- W2616301251 creator A5066463616 @default.
- W2616301251 date "2006-04-01" @default.
- W2616301251 modified "2023-10-11" @default.
- W2616301251 title "Gaucher disease: multiple lessons from a single gene disorder" @default.
- W2616301251 cites W1504567796 @default.
- W2616301251 cites W1539511841 @default.
- W2616301251 cites W1542335975 @default.
- W2616301251 cites W1758125525 @default.
- W2616301251 cites W1981284599 @default.
- W2616301251 cites W1992088688 @default.
- W2616301251 cites W1993685088 @default.
- W2616301251 cites W1998222693 @default.
- W2616301251 cites W2002058137 @default.
- W2616301251 cites W2011709758 @default.
- W2616301251 cites W2012052014 @default.
- W2616301251 cites W2017680639 @default.
- W2616301251 cites W2024930688 @default.
- W2616301251 cites W2026173779 @default.
- W2616301251 cites W2042557135 @default.
- W2616301251 cites W2056498322 @default.
- W2616301251 cites W2059273086 @default.
- W2616301251 cites W2060446485 @default.
- W2616301251 cites W2077868231 @default.
- W2616301251 cites W2078657666 @default.
- W2616301251 cites W2079107506 @default.
- W2616301251 cites W2082257804 @default.
- W2616301251 cites W2089632108 @default.
- W2616301251 cites W2091545674 @default.
- W2616301251 cites W2094914698 @default.
- W2616301251 cites W2105362377 @default.
- W2616301251 cites W2124305857 @default.
- W2616301251 cites W2132911597 @default.
- W2616301251 cites W2134894242 @default.
- W2616301251 cites W2135424735 @default.
- W2616301251 cites W2140474525 @default.
- W2616301251 cites W2164657222 @default.
- W2616301251 cites W2170533045 @default.
- W2616301251 cites W2170919408 @default.
- W2616301251 cites W230215977 @default.
- W2616301251 cites W2322128806 @default.
- W2616301251 cites W2326229951 @default.
- W2616301251 cites W3191861677 @default.
- W2616301251 cites W36645906 @default.
- W2616301251 cites W4240446209 @default.
- W2616301251 cites W4252969769 @default.
- W2616301251 cites W4256541688 @default.
- W2616301251 cites W4302554796 @default.
- W2616301251 doi "https://doi.org/10.1111/j.1651-2227.2006.tb02398.x" @default.
- W2616301251 hasPublicationYear "2006" @default.
- W2616301251 type Work @default.
- W2616301251 sameAs 2616301251 @default.
- W2616301251 citedByCount "6" @default.
- W2616301251 countsByYear W26163012512013 @default.
- W2616301251 countsByYear W26163012512021 @default.
- W2616301251 crossrefType "journal-article" @default.
- W2616301251 hasAuthorship W2616301251A5066463616 @default.
- W2616301251 hasConcept C104317684 @default.
- W2616301251 hasConcept C111599444 @default.
- W2616301251 hasConcept C126322002 @default.
- W2616301251 hasConcept C203014093 @default.
- W2616301251 hasConcept C21850170 @default.
- W2616301251 hasConcept C2776309230 @default.
- W2616301251 hasConcept C2776723260 @default.
- W2616301251 hasConcept C2778264360 @default.
- W2616301251 hasConcept C2779134260 @default.
- W2616301251 hasConcept C2779969927 @default.
- W2616301251 hasConcept C2779994418 @default.
- W2616301251 hasConcept C2780674200 @default.
- W2616301251 hasConcept C2780931953 @default.
- W2616301251 hasConcept C2908647359 @default.
- W2616301251 hasConcept C54355233 @default.
- W2616301251 hasConcept C60644358 @default.
- W2616301251 hasConcept C71924100 @default.
- W2616301251 hasConcept C86803240 @default.
- W2616301251 hasConcept C99454951 @default.
- W2616301251 hasConceptScore W2616301251C104317684 @default.
- W2616301251 hasConceptScore W2616301251C111599444 @default.
- W2616301251 hasConceptScore W2616301251C126322002 @default.
- W2616301251 hasConceptScore W2616301251C203014093 @default.
- W2616301251 hasConceptScore W2616301251C21850170 @default.
- W2616301251 hasConceptScore W2616301251C2776309230 @default.
- W2616301251 hasConceptScore W2616301251C2776723260 @default.
- W2616301251 hasConceptScore W2616301251C2778264360 @default.
- W2616301251 hasConceptScore W2616301251C2779134260 @default.
- W2616301251 hasConceptScore W2616301251C2779969927 @default.
- W2616301251 hasConceptScore W2616301251C2779994418 @default.
- W2616301251 hasConceptScore W2616301251C2780674200 @default.
- W2616301251 hasConceptScore W2616301251C2780931953 @default.
- W2616301251 hasConceptScore W2616301251C2908647359 @default.
- W2616301251 hasConceptScore W2616301251C54355233 @default.
- W2616301251 hasConceptScore W2616301251C60644358 @default.
- W2616301251 hasConceptScore W2616301251C71924100 @default.
- W2616301251 hasConceptScore W2616301251C86803240 @default.
- W2616301251 hasConceptScore W2616301251C99454951 @default.
- W2616301251 hasIssue "S451" @default.
- W2616301251 hasLocation W26163012511 @default.