Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016408839> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W2016408839 endingPage "311" @default.
- W2016408839 startingPage "308" @default.
- W2016408839 abstract "Human carnitine palmitoyl transferase (CTP) deficiency results in two different clinical variants, one with hepatic and one with muscular symptoms. We studied CPT activity and long-chain fatty acid oxidation in fibroblast cell lines from four patients, two from each group. Overall CPT activity was deficient in patients' fibroblasts with the hepatic presentation, as previously demonstrated in patients' fibroblasts with the muscular presentation. The hepatic patients' fibroblasts displayed a CPT1 deficiency which resulted in impaired long-chain fatty acid oxidation. In contrast, CPT1 activity and palmitate oxidation were normal in muscular patients' fibroblasts. In these latter patients, the mutation presumably involved CPT2 activity. These data suggest that CPT deficiency is due to at least two different mutations, resulting in two distinct patterns of clinical and biochemical abnormalities." @default.
- W2016408839 created "2016-06-24" @default.
- W2016408839 creator A5002737264 @default.
- W2016408839 creator A5012849140 @default.
- W2016408839 creator A5043600765 @default.
- W2016408839 creator A5054082245 @default.
- W2016408839 creator A5062101432 @default.
- W2016408839 creator A5073056364 @default.
- W2016408839 creator A5082297338 @default.
- W2016408839 date "1988-09-01" @default.
- W2016408839 modified "2023-09-27" @default.
- W2016408839 title "Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities" @default.
- W2016408839 doi "https://doi.org/10.1203/00006450-198809000-00006" @default.
- W2016408839 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3211616" @default.
- W2016408839 hasPublicationYear "1988" @default.
- W2016408839 type Work @default.
- W2016408839 sameAs 2016408839 @default.
- W2016408839 citedByCount "118" @default.
- W2016408839 countsByYear W20164088392012 @default.
- W2016408839 countsByYear W20164088392013 @default.
- W2016408839 countsByYear W20164088392014 @default.
- W2016408839 countsByYear W20164088392015 @default.
- W2016408839 countsByYear W20164088392016 @default.
- W2016408839 countsByYear W20164088392018 @default.
- W2016408839 countsByYear W20164088392020 @default.
- W2016408839 countsByYear W20164088392021 @default.
- W2016408839 countsByYear W20164088392022 @default.
- W2016408839 crossrefType "journal-article" @default.
- W2016408839 hasAuthorship W2016408839A5002737264 @default.
- W2016408839 hasAuthorship W2016408839A5012849140 @default.
- W2016408839 hasAuthorship W2016408839A5043600765 @default.
- W2016408839 hasAuthorship W2016408839A5054082245 @default.
- W2016408839 hasAuthorship W2016408839A5062101432 @default.
- W2016408839 hasAuthorship W2016408839A5073056364 @default.
- W2016408839 hasAuthorship W2016408839A5082297338 @default.
- W2016408839 hasBestOaLocation W20164088391 @default.
- W2016408839 hasConcept C104317684 @default.
- W2016408839 hasConcept C126322002 @default.
- W2016408839 hasConcept C134018914 @default.
- W2016408839 hasConcept C141071460 @default.
- W2016408839 hasConcept C181199279 @default.
- W2016408839 hasConcept C185592680 @default.
- W2016408839 hasConcept C202751555 @default.
- W2016408839 hasConcept C2776376580 @default.
- W2016408839 hasConcept C2776423169 @default.
- W2016408839 hasConcept C2777601897 @default.
- W2016408839 hasConcept C2778435403 @default.
- W2016408839 hasConcept C2780381497 @default.
- W2016408839 hasConcept C501734568 @default.
- W2016408839 hasConcept C55493867 @default.
- W2016408839 hasConcept C62231903 @default.
- W2016408839 hasConcept C71924100 @default.
- W2016408839 hasConcept C82714985 @default.
- W2016408839 hasConcept C86803240 @default.
- W2016408839 hasConceptScore W2016408839C104317684 @default.
- W2016408839 hasConceptScore W2016408839C126322002 @default.
- W2016408839 hasConceptScore W2016408839C134018914 @default.
- W2016408839 hasConceptScore W2016408839C141071460 @default.
- W2016408839 hasConceptScore W2016408839C181199279 @default.
- W2016408839 hasConceptScore W2016408839C185592680 @default.
- W2016408839 hasConceptScore W2016408839C202751555 @default.
- W2016408839 hasConceptScore W2016408839C2776376580 @default.
- W2016408839 hasConceptScore W2016408839C2776423169 @default.
- W2016408839 hasConceptScore W2016408839C2777601897 @default.
- W2016408839 hasConceptScore W2016408839C2778435403 @default.
- W2016408839 hasConceptScore W2016408839C2780381497 @default.
- W2016408839 hasConceptScore W2016408839C501734568 @default.
- W2016408839 hasConceptScore W2016408839C55493867 @default.
- W2016408839 hasConceptScore W2016408839C62231903 @default.
- W2016408839 hasConceptScore W2016408839C71924100 @default.
- W2016408839 hasConceptScore W2016408839C82714985 @default.
- W2016408839 hasConceptScore W2016408839C86803240 @default.
- W2016408839 hasIssue "3" @default.
- W2016408839 hasLocation W20164088391 @default.
- W2016408839 hasLocation W20164088392 @default.
- W2016408839 hasOpenAccess W2016408839 @default.
- W2016408839 hasPrimaryLocation W20164088391 @default.
- W2016408839 hasRelatedWork W161326241 @default.
- W2016408839 hasRelatedWork W1996780193 @default.
- W2016408839 hasRelatedWork W2008806284 @default.
- W2016408839 hasRelatedWork W2016408839 @default.
- W2016408839 hasRelatedWork W2036116070 @default.
- W2016408839 hasRelatedWork W2060523002 @default.
- W2016408839 hasRelatedWork W2102326852 @default.
- W2016408839 hasRelatedWork W2126771929 @default.
- W2016408839 hasRelatedWork W2166517174 @default.
- W2016408839 hasRelatedWork W76394038 @default.
- W2016408839 hasVolume "24" @default.
- W2016408839 isParatext "false" @default.
- W2016408839 isRetracted "false" @default.
- W2016408839 magId "2016408839" @default.
- W2016408839 workType "article" @default.