Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018630016> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W2018630016 endingPage "60" @default.
- W2018630016 startingPage "54" @default.
- W2018630016 abstract "A family is reported in which three members were affected by cardiomyopathy. Two members died unexpectedly in their second decade. Only a 23-year-old male suffered from the triad of clinical manifestations (cardiomyopathy, mental retardation and vacuolar myopathy). Morphologic findings and biochemical studies of his biopsied skeletal muscle and cultured fibroblasts confirmed lysosomal glycogen storage disease with normal acid maltase that was first described by Danon et al. In this study we demonstrated early morphologic changes, storage of glycogen and abnormal membranous structures in disorganized myofibers in biopsied skeletal muscle from the elder sister, who only showed cardiomyopathy clinically. The aggregation of autophagosomes was prominent in cultured fibroblasts, with an increased glycogen content. The activity of acid α-glucosidase was higher than normal. This is a systemic storage disease with different expression in males and females." @default.
- W2018630016 created "2016-06-24" @default.
- W2018630016 creator A5001023019 @default.
- W2018630016 creator A5011648009 @default.
- W2018630016 creator A5052182924 @default.
- W2018630016 creator A5068323449 @default.
- W2018630016 creator A5077751499 @default.
- W2018630016 creator A5081199440 @default.
- W2018630016 date "1994-12-01" @default.
- W2018630016 modified "2023-09-27" @default.
- W2018630016 title "Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency)" @default.
- W2018630016 cites W1501541274 @default.
- W2018630016 cites W1775749144 @default.
- W2018630016 cites W1971685701 @default.
- W2018630016 cites W1971796636 @default.
- W2018630016 cites W1981181457 @default.
- W2018630016 cites W1991922716 @default.
- W2018630016 cites W2046988210 @default.
- W2018630016 cites W2070157515 @default.
- W2018630016 cites W2092678405 @default.
- W2018630016 cites W2144374370 @default.
- W2018630016 cites W2151085052 @default.
- W2018630016 cites W2161853842 @default.
- W2018630016 doi "https://doi.org/10.1016/0022-510x(94)90135-x" @default.
- W2018630016 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7699392" @default.
- W2018630016 hasPublicationYear "1994" @default.
- W2018630016 type Work @default.
- W2018630016 sameAs 2018630016 @default.
- W2018630016 citedByCount "12" @default.
- W2018630016 countsByYear W20186300162012 @default.
- W2018630016 countsByYear W20186300162013 @default.
- W2018630016 countsByYear W20186300162016 @default.
- W2018630016 countsByYear W20186300162017 @default.
- W2018630016 countsByYear W20186300162019 @default.
- W2018630016 countsByYear W20186300162020 @default.
- W2018630016 countsByYear W20186300162021 @default.
- W2018630016 crossrefType "journal-article" @default.
- W2018630016 hasAuthorship W2018630016A5001023019 @default.
- W2018630016 hasAuthorship W2018630016A5011648009 @default.
- W2018630016 hasAuthorship W2018630016A5052182924 @default.
- W2018630016 hasAuthorship W2018630016A5068323449 @default.
- W2018630016 hasAuthorship W2018630016A5077751499 @default.
- W2018630016 hasAuthorship W2018630016A5081199440 @default.
- W2018630016 hasConcept C126322002 @default.
- W2018630016 hasConcept C134018914 @default.
- W2018630016 hasConcept C142724271 @default.
- W2018630016 hasConcept C207200792 @default.
- W2018630016 hasConcept C2776735236 @default.
- W2018630016 hasConcept C2777300911 @default.
- W2018630016 hasConcept C2777404818 @default.
- W2018630016 hasConcept C2777499176 @default.
- W2018630016 hasConcept C2778198053 @default.
- W2018630016 hasConcept C2778264360 @default.
- W2018630016 hasConcept C2778797674 @default.
- W2018630016 hasConcept C2779134260 @default.
- W2018630016 hasConcept C2779468605 @default.
- W2018630016 hasConcept C2779959927 @default.
- W2018630016 hasConcept C2779969927 @default.
- W2018630016 hasConcept C71924100 @default.
- W2018630016 hasConcept C86803240 @default.
- W2018630016 hasConceptScore W2018630016C126322002 @default.
- W2018630016 hasConceptScore W2018630016C134018914 @default.
- W2018630016 hasConceptScore W2018630016C142724271 @default.
- W2018630016 hasConceptScore W2018630016C207200792 @default.
- W2018630016 hasConceptScore W2018630016C2776735236 @default.
- W2018630016 hasConceptScore W2018630016C2777300911 @default.
- W2018630016 hasConceptScore W2018630016C2777404818 @default.
- W2018630016 hasConceptScore W2018630016C2777499176 @default.
- W2018630016 hasConceptScore W2018630016C2778198053 @default.
- W2018630016 hasConceptScore W2018630016C2778264360 @default.
- W2018630016 hasConceptScore W2018630016C2778797674 @default.
- W2018630016 hasConceptScore W2018630016C2779134260 @default.
- W2018630016 hasConceptScore W2018630016C2779468605 @default.
- W2018630016 hasConceptScore W2018630016C2779959927 @default.
- W2018630016 hasConceptScore W2018630016C2779969927 @default.
- W2018630016 hasConceptScore W2018630016C71924100 @default.
- W2018630016 hasConceptScore W2018630016C86803240 @default.
- W2018630016 hasIssue "1" @default.
- W2018630016 hasLocation W20186300161 @default.
- W2018630016 hasLocation W20186300162 @default.
- W2018630016 hasOpenAccess W2018630016 @default.
- W2018630016 hasPrimaryLocation W20186300161 @default.
- W2018630016 hasRelatedWork W2015970244 @default.
- W2018630016 hasRelatedWork W2034104085 @default.
- W2018630016 hasRelatedWork W2044025882 @default.
- W2018630016 hasRelatedWork W2053735599 @default.
- W2018630016 hasRelatedWork W2054810866 @default.
- W2018630016 hasRelatedWork W2109716633 @default.
- W2018630016 hasRelatedWork W2187198709 @default.
- W2018630016 hasRelatedWork W2312012050 @default.
- W2018630016 hasRelatedWork W2985322561 @default.
- W2018630016 hasRelatedWork W3087178001 @default.
- W2018630016 hasVolume "127" @default.
- W2018630016 isParatext "false" @default.
- W2018630016 isRetracted "false" @default.
- W2018630016 magId "2018630016" @default.
- W2018630016 workType "article" @default.