Matches in SemOpenAlex for { <https://semopenalex.org/work/W2078991303> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W2078991303 endingPage "NP8" @default.
- W2078991303 startingPage "NP5" @default.
- W2078991303 abstract "Muscular dystrophies are progressive, genetic disorders of muscle degeneration. The current gold standard for diagnosis is muscle biopsy or genetic studies. Muscle biopsy is an invasive procedure and genetic testing facilities are available only in a few centers. Thus, a diagnostic test that is easily available, simpler, and less invasive is desirable. Over the past 2 decades, skin biopsy has been evolving as a suitable option. Two cases of sarcoglycanopathy are described here, which have been correctly diagnosed by skin biopsy. Muscle biopsy has been used as the gold-standard diagnostic method. Skin biopsy can substitute for muscle biopsy as the preliminary diagnostic tool directing appropriate molecular testing. However, these results require validation in studies with an adequate sample size. This holds promise for the future when repeated biopsies will be required for evaluating protein rescue in trials of novel treatment options in these disorders." @default.
- W2078991303 created "2016-06-24" @default.
- W2078991303 creator A5011155969 @default.
- W2078991303 creator A5014772258 @default.
- W2078991303 creator A5034670982 @default.
- W2078991303 creator A5064979397 @default.
- W2078991303 creator A5069046939 @default.
- W2078991303 creator A5080146104 @default.
- W2078991303 date "2013-05-16" @default.
- W2078991303 modified "2023-10-16" @default.
- W2078991303 title "Skin Biopsy" @default.
- W2078991303 cites W1968666078 @default.
- W2078991303 cites W1981716920 @default.
- W2078991303 cites W1987682075 @default.
- W2078991303 cites W1994975262 @default.
- W2078991303 cites W2015200709 @default.
- W2078991303 cites W2023311948 @default.
- W2078991303 cites W2032691849 @default.
- W2078991303 cites W2049744175 @default.
- W2078991303 cites W2073470325 @default.
- W2078991303 cites W2078980900 @default.
- W2078991303 cites W2084591484 @default.
- W2078991303 cites W2086252337 @default.
- W2078991303 cites W2100964467 @default.
- W2078991303 cites W2122988435 @default.
- W2078991303 cites W2149462859 @default.
- W2078991303 cites W2154747396 @default.
- W2078991303 doi "https://doi.org/10.1177/0883073813488662" @default.
- W2078991303 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23680947" @default.
- W2078991303 hasPublicationYear "2013" @default.
- W2078991303 type Work @default.
- W2078991303 sameAs 2078991303 @default.
- W2078991303 citedByCount "4" @default.
- W2078991303 countsByYear W20789913032015 @default.
- W2078991303 countsByYear W20789913032017 @default.
- W2078991303 crossrefType "journal-article" @default.
- W2078991303 hasAuthorship W2078991303A5011155969 @default.
- W2078991303 hasAuthorship W2078991303A5014772258 @default.
- W2078991303 hasAuthorship W2078991303A5034670982 @default.
- W2078991303 hasAuthorship W2078991303A5064979397 @default.
- W2078991303 hasAuthorship W2078991303A5069046939 @default.
- W2078991303 hasAuthorship W2078991303A5080146104 @default.
- W2078991303 hasConcept C126322002 @default.
- W2078991303 hasConcept C126838900 @default.
- W2078991303 hasConcept C2775934546 @default.
- W2078991303 hasConcept C2779999465 @default.
- W2078991303 hasConcept C2780439664 @default.
- W2078991303 hasConcept C2780673598 @default.
- W2078991303 hasConcept C40993552 @default.
- W2078991303 hasConcept C71924100 @default.
- W2078991303 hasConceptScore W2078991303C126322002 @default.
- W2078991303 hasConceptScore W2078991303C126838900 @default.
- W2078991303 hasConceptScore W2078991303C2775934546 @default.
- W2078991303 hasConceptScore W2078991303C2779999465 @default.
- W2078991303 hasConceptScore W2078991303C2780439664 @default.
- W2078991303 hasConceptScore W2078991303C2780673598 @default.
- W2078991303 hasConceptScore W2078991303C40993552 @default.
- W2078991303 hasConceptScore W2078991303C71924100 @default.
- W2078991303 hasIssue "8" @default.
- W2078991303 hasLocation W20789913031 @default.
- W2078991303 hasLocation W20789913032 @default.
- W2078991303 hasOpenAccess W2078991303 @default.
- W2078991303 hasPrimaryLocation W20789913031 @default.
- W2078991303 hasRelatedWork W1186010788 @default.
- W2078991303 hasRelatedWork W1978849845 @default.
- W2078991303 hasRelatedWork W1988591658 @default.
- W2078991303 hasRelatedWork W2078991303 @default.
- W2078991303 hasRelatedWork W2079207493 @default.
- W2078991303 hasRelatedWork W2947239534 @default.
- W2078991303 hasRelatedWork W3165211857 @default.
- W2078991303 hasRelatedWork W4200066940 @default.
- W2078991303 hasRelatedWork W91786401 @default.
- W2078991303 hasRelatedWork W2223500884 @default.
- W2078991303 hasVolume "29" @default.
- W2078991303 isParatext "false" @default.
- W2078991303 isRetracted "false" @default.
- W2078991303 magId "2078991303" @default.
- W2078991303 workType "article" @default.