FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2892735880> ?p ?o ?g. }

• W2892735880 endingPage "e6" @default.
• W2892735880 startingPage "e1" @default.
• W2892735880 abstract "Mutations in the nuclear gene DGUOK, encoding deoxyguanosine kinase, cause an infantile hepatocerebral type of mitochondrial depletion syndrome (MDS). We report 6 MDS patients harboring bi-allelic DGUOK mutations, of which 3 are novel, including a large intragenic Austrian founder deletion. One patient was diagnosed with hepatocellular carcinoma aged 6 months, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development." @default.
• W2892735880 created "2018-10-05" @default.
• W2892735880 creator A5006925175 @default.
• W2892735880 creator A5035084533 @default.
• W2892735880 creator A5053525153 @default.
• W2892735880 creator A5057082687 @default.
• W2892735880 creator A5057509202 @default.
• W2892735880 creator A5061990741 @default.
• W2892735880 creator A5062238961 @default.
• W2892735880 creator A5065706727 @default.
• W2892735880 creator A5070875825 @default.
• W2892735880 creator A5072547508 @default.
• W2892735880 creator A5076766928 @default.
• W2892735880 creator A5077434041 @default.
• W2892735880 date "2019-01-01" @default.
• W2892735880 modified "2023-10-06" @default.
• W2892735880 title "Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series" @default.
• W2892735880 cites W1527450555 @default.
• W2892735880 cites W1870385025 @default.
• W2892735880 cites W1940285127 @default.
• W2892735880 cites W1977346314 @default.
• W2892735880 cites W1977836477 @default.
• W2892735880 cites W2005456306 @default.
• W2892735880 cites W2014624191 @default.
• W2892735880 cites W2024255105 @default.
• W2892735880 cites W2035475790 @default.
• W2892735880 cites W2046749013 @default.
• W2892735880 cites W2060570129 @default.
• W2892735880 cites W2065124025 @default.
• W2892735880 cites W2068354638 @default.
• W2892735880 cites W2080595761 @default.
• W2892735880 cites W2083711552 @default.
• W2892735880 cites W2084461617 @default.
• W2892735880 cites W2128919887 @default.
• W2892735880 cites W2140742598 @default.
• W2892735880 cites W2158743162 @default.
• W2892735880 cites W2163572789 @default.
• W2892735880 cites W2166936783 @default.
• W2892735880 cites W2320802881 @default.
• W2892735880 cites W2531457451 @default.
• W2892735880 cites W2571842094 @default.
• W2892735880 doi "https://doi.org/10.1097/mpg.0000000000002149" @default.
• W2892735880 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30589726" @default.
• W2892735880 hasPublicationYear "2019" @default.
• W2892735880 type Work @default.
• W2892735880 sameAs 2892735880 @default.
• W2892735880 citedByCount "12" @default.
• W2892735880 countsByYear W28927358802019 @default.
• W2892735880 countsByYear W28927358802020 @default.
• W2892735880 countsByYear W28927358802021 @default.
• W2892735880 countsByYear W28927358802022 @default.
• W2892735880 countsByYear W28927358802023 @default.
• W2892735880 crossrefType "journal-article" @default.
• W2892735880 hasAuthorship W2892735880A5006925175 @default.
• W2892735880 hasAuthorship W2892735880A5035084533 @default.
• W2892735880 hasAuthorship W2892735880A5053525153 @default.
• W2892735880 hasAuthorship W2892735880A5057082687 @default.
• W2892735880 hasAuthorship W2892735880A5057509202 @default.
• W2892735880 hasAuthorship W2892735880A5061990741 @default.
• W2892735880 hasAuthorship W2892735880A5062238961 @default.
• W2892735880 hasAuthorship W2892735880A5065706727 @default.
• W2892735880 hasAuthorship W2892735880A5070875825 @default.
• W2892735880 hasAuthorship W2892735880A5072547508 @default.
• W2892735880 hasAuthorship W2892735880A5076766928 @default.
• W2892735880 hasAuthorship W2892735880A5077434041 @default.
• W2892735880 hasBestOaLocation W28927358801 @default.
• W2892735880 hasConcept C104317684 @default.
• W2892735880 hasConcept C126322002 @default.
• W2892735880 hasConcept C24586158 @default.
• W2892735880 hasConcept C2776151105 @default.
• W2892735880 hasConcept C2779609443 @default.
• W2892735880 hasConcept C2780441211 @default.
• W2892735880 hasConcept C2911091166 @default.
• W2892735880 hasConcept C501734568 @default.
• W2892735880 hasConcept C502942594 @default.
• W2892735880 hasConcept C54355233 @default.
• W2892735880 hasConcept C555283112 @default.
• W2892735880 hasConcept C71924100 @default.
• W2892735880 hasConcept C86803240 @default.
• W2892735880 hasConceptScore W2892735880C104317684 @default.
• W2892735880 hasConceptScore W2892735880C126322002 @default.
• W2892735880 hasConceptScore W2892735880C24586158 @default.
• W2892735880 hasConceptScore W2892735880C2776151105 @default.
• W2892735880 hasConceptScore W2892735880C2779609443 @default.
• W2892735880 hasConceptScore W2892735880C2780441211 @default.
• W2892735880 hasConceptScore W2892735880C2911091166 @default.
• W2892735880 hasConceptScore W2892735880C501734568 @default.
• W2892735880 hasConceptScore W2892735880C502942594 @default.
• W2892735880 hasConceptScore W2892735880C54355233 @default.
• W2892735880 hasConceptScore W2892735880C555283112 @default.
• W2892735880 hasConceptScore W2892735880C71924100 @default.
• W2892735880 hasConceptScore W2892735880C86803240 @default.
• W2892735880 hasIssue "1" @default.
• W2892735880 hasLocation W28927358801 @default.
• W2892735880 hasLocation W28927358802 @default.
• W2892735880 hasOpenAccess W2892735880 @default.
• W2892735880 hasPrimaryLocation W28927358801 @default.
• W2892735880 hasRelatedWork W1790985176 @default.

• next