Matches in SemOpenAlex for { <https://semopenalex.org/work/W1609147907> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W1609147907 endingPage "14" @default.
- W1609147907 startingPage "109" @default.
- W1609147907 abstract "An unusual form of familial myocardiopathy is reported. The disease affected siblings entering adulthood and presented as subclinical skeletal muscle and patent cardiac muscle lesions. Quadriceps muscle biopsy performed in a young man who subsequently died of cardial failure revealed excessive lysosomal glycogen storage, as in type II glycogenosis, but biochemistry showed normal enzymatic activity. In a sister with hypertrophic myocardiopathy only leucocytes were examined; they also showed normal enzymatic activity. Other clinical manifestations of this form of familial myocardiopathy are hypoglycaemia and moderate skeletal muscle involvement. At histology, the image is that of Pompe's disease, but the acid maltase level is normal. The condition seems to be transmitted as an autosomal dominant trait." @default.
- W1609147907 created "2016-06-24" @default.
- W1609147907 creator A5000382696 @default.
- W1609147907 creator A5021706716 @default.
- W1609147907 creator A5029618303 @default.
- W1609147907 creator A5035040462 @default.
- W1609147907 creator A5046418308 @default.
- W1609147907 creator A5065788902 @default.
- W1609147907 creator A5085638118 @default.
- W1609147907 date "1988-01-01" @default.
- W1609147907 modified "2023-09-26" @default.
- W1609147907 title "[Cardiomuscular lysosomal glycogenosis in adults without known enzyme deficiency. A cause of familial myocardiopathy and lysosomal glycogen overload with normal acid maltase]." @default.
- W1609147907 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3130016" @default.
- W1609147907 hasPublicationYear "1988" @default.
- W1609147907 type Work @default.
- W1609147907 sameAs 1609147907 @default.
- W1609147907 citedByCount "2" @default.
- W1609147907 crossrefType "journal-article" @default.
- W1609147907 hasAuthorship W1609147907A5000382696 @default.
- W1609147907 hasAuthorship W1609147907A5021706716 @default.
- W1609147907 hasAuthorship W1609147907A5029618303 @default.
- W1609147907 hasAuthorship W1609147907A5035040462 @default.
- W1609147907 hasAuthorship W1609147907A5046418308 @default.
- W1609147907 hasAuthorship W1609147907A5065788902 @default.
- W1609147907 hasAuthorship W1609147907A5085638118 @default.
- W1609147907 hasConcept C104317684 @default.
- W1609147907 hasConcept C113280763 @default.
- W1609147907 hasConcept C126322002 @default.
- W1609147907 hasConcept C134018914 @default.
- W1609147907 hasConcept C2775934546 @default.
- W1609147907 hasConcept C2776735236 @default.
- W1609147907 hasConcept C2777499176 @default.
- W1609147907 hasConcept C2778996579 @default.
- W1609147907 hasConcept C2779134260 @default.
- W1609147907 hasConcept C2779468605 @default.
- W1609147907 hasConcept C2779959927 @default.
- W1609147907 hasConcept C2779969927 @default.
- W1609147907 hasConcept C2779999465 @default.
- W1609147907 hasConcept C3020341036 @default.
- W1609147907 hasConcept C55493867 @default.
- W1609147907 hasConcept C71924100 @default.
- W1609147907 hasConcept C86803240 @default.
- W1609147907 hasConceptScore W1609147907C104317684 @default.
- W1609147907 hasConceptScore W1609147907C113280763 @default.
- W1609147907 hasConceptScore W1609147907C126322002 @default.
- W1609147907 hasConceptScore W1609147907C134018914 @default.
- W1609147907 hasConceptScore W1609147907C2775934546 @default.
- W1609147907 hasConceptScore W1609147907C2776735236 @default.
- W1609147907 hasConceptScore W1609147907C2777499176 @default.
- W1609147907 hasConceptScore W1609147907C2778996579 @default.
- W1609147907 hasConceptScore W1609147907C2779134260 @default.
- W1609147907 hasConceptScore W1609147907C2779468605 @default.
- W1609147907 hasConceptScore W1609147907C2779959927 @default.
- W1609147907 hasConceptScore W1609147907C2779969927 @default.
- W1609147907 hasConceptScore W1609147907C2779999465 @default.
- W1609147907 hasConceptScore W1609147907C3020341036 @default.
- W1609147907 hasConceptScore W1609147907C55493867 @default.
- W1609147907 hasConceptScore W1609147907C71924100 @default.
- W1609147907 hasConceptScore W1609147907C86803240 @default.
- W1609147907 hasIssue "1" @default.
- W1609147907 hasLocation W16091479071 @default.
- W1609147907 hasOpenAccess W1609147907 @default.
- W1609147907 hasPrimaryLocation W16091479071 @default.
- W1609147907 hasRelatedWork W1501541274 @default.
- W1609147907 hasRelatedWork W1563827443 @default.
- W1609147907 hasRelatedWork W1609147907 @default.
- W1609147907 hasRelatedWork W1971796636 @default.
- W1609147907 hasRelatedWork W2015970244 @default.
- W1609147907 hasRelatedWork W2412436272 @default.
- W1609147907 hasRelatedWork W2471771085 @default.
- W1609147907 hasRelatedWork W2528923702 @default.
- W1609147907 hasRelatedWork W2752708895 @default.
- W1609147907 hasRelatedWork W2783339393 @default.
- W1609147907 hasVolume "81" @default.
- W1609147907 isParatext "false" @default.
- W1609147907 isRetracted "false" @default.
- W1609147907 magId "1609147907" @default.
- W1609147907 workType "article" @default.