Matches in SemOpenAlex for { <https://semopenalex.org/work/W2032674230> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W2032674230 endingPage "392" @default.
- W2032674230 startingPage "387" @default.
- W2032674230 abstract "We report a boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially diagnosed to have congenital muscular dystrophy on the basis of the age of onset, a myopathic EMG, an elevated creatine kinase and a dystrophic muscle biopsy. Subsequently, dystrophin immunocytochemistry and immunoblot analysis showed complete absence of dystrophin. We suggest that male cases of CMD should undergo dystrophin analysis, if there is calf hypertrophy and markedly elevated CK (>2000 U/l)." @default.
- W2032674230 created "2016-06-24" @default.
- W2032674230 creator A5012984487 @default.
- W2032674230 creator A5033168742 @default.
- W2032674230 creator A5047064471 @default.
- W2032674230 creator A5067137836 @default.
- W2032674230 creator A5083408851 @default.
- W2032674230 date "1994-07-01" @default.
- W2032674230 modified "2023-09-29" @default.
- W2032674230 title "Dystrophinopathy presenting as congenital muscular dystrophy" @default.
- W2032674230 cites W1512022057 @default.
- W2032674230 cites W1978457624 @default.
- W2032674230 cites W1979404987 @default.
- W2032674230 cites W1991090751 @default.
- W2032674230 cites W1995157333 @default.
- W2032674230 cites W1995206605 @default.
- W2032674230 cites W1995560825 @default.
- W2032674230 cites W2029179004 @default.
- W2032674230 cites W2031686254 @default.
- W2032674230 cites W2046948394 @default.
- W2032674230 cites W2049126442 @default.
- W2032674230 cites W2095065200 @default.
- W2032674230 cites W2123450225 @default.
- W2032674230 cites W2322780762 @default.
- W2032674230 cites W1973440779 @default.
- W2032674230 doi "https://doi.org/10.1016/0960-8966(94)90075-2" @default.
- W2032674230 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7981596" @default.
- W2032674230 hasPublicationYear "1994" @default.
- W2032674230 type Work @default.
- W2032674230 sameAs 2032674230 @default.
- W2032674230 citedByCount "11" @default.
- W2032674230 countsByYear W20326742302023 @default.
- W2032674230 crossrefType "journal-article" @default.
- W2032674230 hasAuthorship W2032674230A5012984487 @default.
- W2032674230 hasAuthorship W2032674230A5033168742 @default.
- W2032674230 hasAuthorship W2032674230A5047064471 @default.
- W2032674230 hasAuthorship W2032674230A5067137836 @default.
- W2032674230 hasAuthorship W2032674230A5083408851 @default.
- W2032674230 hasConcept C105702510 @default.
- W2032674230 hasConcept C126322002 @default.
- W2032674230 hasConcept C127607297 @default.
- W2032674230 hasConcept C142724271 @default.
- W2032674230 hasConcept C167414201 @default.
- W2032674230 hasConcept C2775934546 @default.
- W2032674230 hasConcept C2778943923 @default.
- W2032674230 hasConcept C2779030066 @default.
- W2032674230 hasConcept C2779546488 @default.
- W2032674230 hasConcept C2779768179 @default.
- W2032674230 hasConcept C2779999465 @default.
- W2032674230 hasConcept C2780394045 @default.
- W2032674230 hasConcept C2911046722 @default.
- W2032674230 hasConcept C35866371 @default.
- W2032674230 hasConcept C36880943 @default.
- W2032674230 hasConcept C71924100 @default.
- W2032674230 hasConceptScore W2032674230C105702510 @default.
- W2032674230 hasConceptScore W2032674230C126322002 @default.
- W2032674230 hasConceptScore W2032674230C127607297 @default.
- W2032674230 hasConceptScore W2032674230C142724271 @default.
- W2032674230 hasConceptScore W2032674230C167414201 @default.
- W2032674230 hasConceptScore W2032674230C2775934546 @default.
- W2032674230 hasConceptScore W2032674230C2778943923 @default.
- W2032674230 hasConceptScore W2032674230C2779030066 @default.
- W2032674230 hasConceptScore W2032674230C2779546488 @default.
- W2032674230 hasConceptScore W2032674230C2779768179 @default.
- W2032674230 hasConceptScore W2032674230C2779999465 @default.
- W2032674230 hasConceptScore W2032674230C2780394045 @default.
- W2032674230 hasConceptScore W2032674230C2911046722 @default.
- W2032674230 hasConceptScore W2032674230C35866371 @default.
- W2032674230 hasConceptScore W2032674230C36880943 @default.
- W2032674230 hasConceptScore W2032674230C71924100 @default.
- W2032674230 hasIssue "4" @default.
- W2032674230 hasLocation W20326742301 @default.
- W2032674230 hasLocation W20326742302 @default.
- W2032674230 hasOpenAccess W2032674230 @default.
- W2032674230 hasPrimaryLocation W20326742301 @default.
- W2032674230 hasRelatedWork W1997665961 @default.
- W2032674230 hasRelatedWork W2009370334 @default.
- W2032674230 hasRelatedWork W2031663367 @default.
- W2032674230 hasRelatedWork W2032674230 @default.
- W2032674230 hasRelatedWork W2072594560 @default.
- W2032674230 hasRelatedWork W2083511953 @default.
- W2032674230 hasRelatedWork W2143475067 @default.
- W2032674230 hasRelatedWork W2374440436 @default.
- W2032674230 hasRelatedWork W2416952837 @default.
- W2032674230 hasRelatedWork W3202102676 @default.
- W2032674230 hasVolume "4" @default.
- W2032674230 isParatext "false" @default.
- W2032674230 isRetracted "false" @default.
- W2032674230 magId "2032674230" @default.
- W2032674230 workType "article" @default.