Matches in SemOpenAlex for { <https://semopenalex.org/work/W2034278667> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2034278667 endingPage "198" @default.
- W2034278667 startingPage "191" @default.
- W2034278667 abstract "Pompe disease is an autosomal recessive disorder of glycogen metabolism resulting from a deficiency of acid alpha-glucosidase. Pompe disease can present within a broad clinical spectrum, from the severe infantile to the attenuated adult onset phenotypes. Early diagnosis, in the form of newborn screening has been proposed. However, in the absence of clinical symptoms, prediction of disease severity and progression will be critical to provide appropriate management and treatment of affected individuals.We have used sensitive immune-assays to measure levels of acid alpha-glucosidase protein and activity in cultured skin fibroblasts and a new glycogen assay to specifically determine the lysosomal accumulation of glycogen in the same cells. These markers were assessed for their ability to predict age of onset.Acid alpha-glucosidase activity and specific activity as well as lysosomal glycogen showed significant correlations with age of onset, with acid alpha-glucosidase activity having the highest Spearman correlation coefficient (0.887, p<0.001). Lysosomal glycogen accumulated only in cells from infantile and juvenile patients but not from adult-onset patients. However, cells from adult-onset patients had relatively low cytoplasmic glycogen compared to control individuals and other forms of the disease.Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease." @default.
- W2034278667 created "2016-06-24" @default.
- W2034278667 creator A5010188514 @default.
- W2034278667 creator A5022486673 @default.
- W2034278667 creator A5063533005 @default.
- W2034278667 date "2005-11-01" @default.
- W2034278667 modified "2023-10-09" @default.
- W2034278667 title "Correlation of acid α-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease" @default.
- W2034278667 cites W1508384479 @default.
- W2034278667 cites W1988631157 @default.
- W2034278667 cites W2001805850 @default.
- W2034278667 cites W2019247095 @default.
- W2034278667 cites W2020970293 @default.
- W2034278667 cites W2039207316 @default.
- W2034278667 cites W2047371368 @default.
- W2034278667 cites W2047636005 @default.
- W2034278667 cites W2053410151 @default.
- W2034278667 cites W2084276666 @default.
- W2034278667 cites W2086441889 @default.
- W2034278667 cites W2093722439 @default.
- W2034278667 cites W2100093768 @default.
- W2034278667 cites W2107502509 @default.
- W2034278667 cites W2109581185 @default.
- W2034278667 cites W2155142318 @default.
- W2034278667 cites W2403986032 @default.
- W2034278667 cites W4232534952 @default.
- W2034278667 cites W4251602905 @default.
- W2034278667 cites W4297672221 @default.
- W2034278667 doi "https://doi.org/10.1016/j.cccn.2005.05.025" @default.
- W2034278667 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15993875" @default.
- W2034278667 hasPublicationYear "2005" @default.
- W2034278667 type Work @default.
- W2034278667 sameAs 2034278667 @default.
- W2034278667 citedByCount "25" @default.
- W2034278667 countsByYear W20342786672012 @default.
- W2034278667 countsByYear W20342786672013 @default.
- W2034278667 countsByYear W20342786672014 @default.
- W2034278667 countsByYear W20342786672015 @default.
- W2034278667 countsByYear W20342786672017 @default.
- W2034278667 countsByYear W20342786672020 @default.
- W2034278667 countsByYear W20342786672021 @default.
- W2034278667 countsByYear W20342786672022 @default.
- W2034278667 crossrefType "journal-article" @default.
- W2034278667 hasAuthorship W2034278667A5010188514 @default.
- W2034278667 hasAuthorship W2034278667A5022486673 @default.
- W2034278667 hasAuthorship W2034278667A5063533005 @default.
- W2034278667 hasConcept C126322002 @default.
- W2034278667 hasConcept C134018914 @default.
- W2034278667 hasConcept C2776735236 @default.
- W2034278667 hasConcept C2777499176 @default.
- W2034278667 hasConcept C2777767895 @default.
- W2034278667 hasConcept C2779134260 @default.
- W2034278667 hasConcept C2779468605 @default.
- W2034278667 hasConcept C2779969927 @default.
- W2034278667 hasConcept C71924100 @default.
- W2034278667 hasConcept C86803240 @default.
- W2034278667 hasConceptScore W2034278667C126322002 @default.
- W2034278667 hasConceptScore W2034278667C134018914 @default.
- W2034278667 hasConceptScore W2034278667C2776735236 @default.
- W2034278667 hasConceptScore W2034278667C2777499176 @default.
- W2034278667 hasConceptScore W2034278667C2777767895 @default.
- W2034278667 hasConceptScore W2034278667C2779134260 @default.
- W2034278667 hasConceptScore W2034278667C2779468605 @default.
- W2034278667 hasConceptScore W2034278667C2779969927 @default.
- W2034278667 hasConceptScore W2034278667C71924100 @default.
- W2034278667 hasConceptScore W2034278667C86803240 @default.
- W2034278667 hasIssue "1-2" @default.
- W2034278667 hasLocation W20342786671 @default.
- W2034278667 hasLocation W20342786672 @default.
- W2034278667 hasOpenAccess W2034278667 @default.
- W2034278667 hasPrimaryLocation W20342786671 @default.
- W2034278667 hasRelatedWork W1988310651 @default.
- W2034278667 hasRelatedWork W1997053742 @default.
- W2034278667 hasRelatedWork W2009928958 @default.
- W2034278667 hasRelatedWork W2022807266 @default.
- W2034278667 hasRelatedWork W202703229 @default.
- W2034278667 hasRelatedWork W2078718267 @default.
- W2034278667 hasRelatedWork W2173022900 @default.
- W2034278667 hasRelatedWork W2412723576 @default.
- W2034278667 hasRelatedWork W2757235956 @default.
- W2034278667 hasRelatedWork W2976865511 @default.
- W2034278667 hasVolume "361" @default.
- W2034278667 isParatext "false" @default.
- W2034278667 isRetracted "false" @default.
- W2034278667 magId "2034278667" @default.
- W2034278667 workType "article" @default.