Matches in SemOpenAlex for { <https://semopenalex.org/work/W4242804477> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W4242804477 endingPage "18" @default.
- W4242804477 startingPage "13" @default.
- W4242804477 abstract "Abstract In 1882, Philippe Gaucher described a 32-year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a “primary epithelioma of the spleen.” The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next century. The delineation of the causal enzymatic defects, genetics, molecular pathology, and genomics have provided pathogenic insights into the phenotypic spectrum and the bases for development of specific therapies for what is now known as Gaucher disease. As a prototype, the clinically and economically successful intracellular enzyme therapy provided the impetus for the expansion of similar research and therapeutic developments for other lysosomal storage diseases (LSDs) and orphan diseases, including Fabry, Pompe, and Niemann-Pick diseases, as well as several mucopolysaccharidoses. Continuing studies of such LSDs, which occur as a group in more than 7000 live births, have revealed the complex molecular interdigitation with the autophagy and apoptotic pathways and proteostasis and the impact of disruptions of the lysosomal/autophagy and proteostasis systems on more common diseases has been recognized. Examples include age-related neurodegenerative diseases (eg, Parkinson disease and Gaucher disease), idiopathic hypertrophic myocardiopathies, stroke and renal failure (eg, Fabry disease), and Nonalcoholic Fatty Liver Disease/Nonalcoholic SteatoHepatitis (NAFLD/NASH) and atherosclerosis (eg, lysosomal acid lipase deficiencies). Although perceived as rare, the availability of treatment and the impact of the LSDs on more common diseases require their integration into routine clinical practice." @default.
- W4242804477 created "2022-05-12" @default.
- W4242804477 creator A5042864917 @default.
- W4242804477 date "2012-12-08" @default.
- W4242804477 modified "2023-10-17" @default.
- W4242804477 title "Gaucher disease and other storage disorders" @default.
- W4242804477 cites W1831130622 @default.
- W4242804477 cites W1972879829 @default.
- W4242804477 cites W1976082900 @default.
- W4242804477 cites W1992646508 @default.
- W4242804477 cites W2011287480 @default.
- W4242804477 cites W2011709758 @default.
- W4242804477 cites W2018603101 @default.
- W4242804477 cites W2028950116 @default.
- W4242804477 cites W2031365272 @default.
- W4242804477 cites W2054690534 @default.
- W4242804477 cites W2067584665 @default.
- W4242804477 cites W2069274491 @default.
- W4242804477 cites W2072550019 @default.
- W4242804477 cites W2078235658 @default.
- W4242804477 cites W2079133058 @default.
- W4242804477 cites W2088638526 @default.
- W4242804477 cites W2100601932 @default.
- W4242804477 cites W2103986567 @default.
- W4242804477 cites W2107599016 @default.
- W4242804477 cites W2117242310 @default.
- W4242804477 cites W2124663723 @default.
- W4242804477 cites W2135424735 @default.
- W4242804477 cites W2140596567 @default.
- W4242804477 cites W2140984295 @default.
- W4242804477 cites W2170281382 @default.
- W4242804477 cites W2270885610 @default.
- W4242804477 cites W2322128806 @default.
- W4242804477 cites W2886488344 @default.
- W4242804477 doi "https://doi.org/10.1182/asheducation.v2012.1.13.3797921" @default.
- W4242804477 hasPublicationYear "2012" @default.
- W4242804477 type Work @default.
- W4242804477 citedByCount "77" @default.
- W4242804477 countsByYear W42428044772013 @default.
- W4242804477 countsByYear W42428044772014 @default.
- W4242804477 countsByYear W42428044772015 @default.
- W4242804477 countsByYear W42428044772016 @default.
- W4242804477 countsByYear W42428044772017 @default.
- W4242804477 countsByYear W42428044772018 @default.
- W4242804477 countsByYear W42428044772019 @default.
- W4242804477 countsByYear W42428044772020 @default.
- W4242804477 countsByYear W42428044772021 @default.
- W4242804477 countsByYear W42428044772022 @default.
- W4242804477 countsByYear W42428044772023 @default.
- W4242804477 crossrefType "journal-article" @default.
- W4242804477 hasAuthorship W4242804477A5042864917 @default.
- W4242804477 hasBestOaLocation W42428044771 @default.
- W4242804477 hasConcept C142724271 @default.
- W4242804477 hasConcept C203014093 @default.
- W4242804477 hasConcept C2776723260 @default.
- W4242804477 hasConcept C2778264360 @default.
- W4242804477 hasConcept C2779134260 @default.
- W4242804477 hasConcept C2779969927 @default.
- W4242804477 hasConcept C2780674200 @default.
- W4242804477 hasConcept C2781452922 @default.
- W4242804477 hasConcept C54355233 @default.
- W4242804477 hasConcept C60644358 @default.
- W4242804477 hasConcept C71924100 @default.
- W4242804477 hasConcept C86803240 @default.
- W4242804477 hasConceptScore W4242804477C142724271 @default.
- W4242804477 hasConceptScore W4242804477C203014093 @default.
- W4242804477 hasConceptScore W4242804477C2776723260 @default.
- W4242804477 hasConceptScore W4242804477C2778264360 @default.
- W4242804477 hasConceptScore W4242804477C2779134260 @default.
- W4242804477 hasConceptScore W4242804477C2779969927 @default.
- W4242804477 hasConceptScore W4242804477C2780674200 @default.
- W4242804477 hasConceptScore W4242804477C2781452922 @default.
- W4242804477 hasConceptScore W4242804477C54355233 @default.
- W4242804477 hasConceptScore W4242804477C60644358 @default.
- W4242804477 hasConceptScore W4242804477C71924100 @default.
- W4242804477 hasConceptScore W4242804477C86803240 @default.
- W4242804477 hasIssue "1" @default.
- W4242804477 hasLocation W42428044771 @default.
- W4242804477 hasOpenAccess W4242804477 @default.
- W4242804477 hasPrimaryLocation W42428044771 @default.
- W4242804477 hasRelatedWork W2028249478 @default.
- W4242804477 hasRelatedWork W2032880921 @default.
- W4242804477 hasRelatedWork W2034494850 @default.
- W4242804477 hasRelatedWork W2090958357 @default.
- W4242804477 hasRelatedWork W2367213738 @default.
- W4242804477 hasRelatedWork W2410542573 @default.
- W4242804477 hasRelatedWork W2419618477 @default.
- W4242804477 hasRelatedWork W3133979323 @default.
- W4242804477 hasRelatedWork W4241607577 @default.
- W4242804477 hasRelatedWork W4242804477 @default.
- W4242804477 hasVolume "2012" @default.
- W4242804477 isParatext "false" @default.
- W4242804477 isRetracted "false" @default.
- W4242804477 workType "article" @default.