FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2015001973> ?p ?o ?g. }

• W2015001973 endingPage "296" @default.
• W2015001973 startingPage "293" @default.
• W2015001973 abstract "Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a severe course with a rapid neurologic deterioration. Although magnetic resonance imaging is useful for diagnosis, currently diagnosis is confirmed by the finding of missense mutation in the glial fibrillary acidic protein (GFAP) gene. This case reports a female who presented at the age of 5 months with refractory epilepsy and hypotonia. Laboratory examinations, muscle biopsy examination, and energetic metabolic study in muscle indicated increased concentrations of lactate, mitochondria with structural abnormalities, and decreased cytochrome-c oxidase activity respectively. Later, both clinical course and magnetic resonance findings were compatible with Alexander disease, which was confirmed by the finding of a novel glial fibrillary acidic protein gene mutation." @default.
• W2015001973 created "2016-06-24" @default.
• W2015001973 creator A5026626886 @default.
• W2015001973 creator A5064722158 @default.
• W2015001973 creator A5070457773 @default.
• W2015001973 creator A5076797310 @default.
• W2015001973 date "2006-10-01" @default.
• W2015001973 modified "2023-09-26" @default.
• W2015001973 title "Early Mitochondrial Dysfunction in an Infant With Alexander Disease" @default.
• W2015001973 cites W1227914317 @default.
• W2015001973 cites W1557864804 @default.
• W2015001973 cites W1584602900 @default.
• W2015001973 cites W1783167738 @default.
• W2015001973 cites W1963764472 @default.
• W2015001973 cites W2017766545 @default.
• W2015001973 cites W2023596504 @default.
• W2015001973 cites W2035504868 @default.
• W2015001973 cites W2059970024 @default.
• W2015001973 cites W2063377136 @default.
• W2015001973 cites W2076433667 @default.
• W2015001973 cites W2081646082 @default.
• W2015001973 cites W2084419598 @default.
• W2015001973 cites W2112911664 @default.
• W2015001973 doi "https://doi.org/10.1016/j.pediatrneurol.2006.03.010" @default.
• W2015001973 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16996408" @default.
• W2015001973 hasPublicationYear "2006" @default.
• W2015001973 type Work @default.
• W2015001973 sameAs 2015001973 @default.
• W2015001973 citedByCount "17" @default.
• W2015001973 countsByYear W20150019732013 @default.
• W2015001973 countsByYear W20150019732014 @default.
• W2015001973 countsByYear W20150019732015 @default.
• W2015001973 countsByYear W20150019732016 @default.
• W2015001973 countsByYear W20150019732018 @default.
• W2015001973 countsByYear W20150019732019 @default.
• W2015001973 countsByYear W20150019732020 @default.
• W2015001973 countsByYear W20150019732021 @default.
• W2015001973 countsByYear W20150019732023 @default.
• W2015001973 crossrefType "journal-article" @default.
• W2015001973 hasAuthorship W2015001973A5026626886 @default.
• W2015001973 hasAuthorship W2015001973A5064722158 @default.
• W2015001973 hasAuthorship W2015001973A5070457773 @default.
• W2015001973 hasAuthorship W2015001973A5076797310 @default.
• W2015001973 hasConcept C104317684 @default.
• W2015001973 hasConcept C118552586 @default.
• W2015001973 hasConcept C123249941 @default.
• W2015001973 hasConcept C126322002 @default.
• W2015001973 hasConcept C126838900 @default.
• W2015001973 hasConcept C142724271 @default.
• W2015001973 hasConcept C143409427 @default.
• W2015001973 hasConcept C187212893 @default.
• W2015001973 hasConcept C204232928 @default.
• W2015001973 hasConcept C24586158 @default.
• W2015001973 hasConcept C2775833069 @default.
• W2015001973 hasConcept C2775934546 @default.
• W2015001973 hasConcept C2778186239 @default.
• W2015001973 hasConcept C2778461778 @default.
• W2015001973 hasConcept C2779134260 @default.
• W2015001973 hasConcept C2779546488 @default.
• W2015001973 hasConcept C2779799828 @default.
• W2015001973 hasConcept C2779999465 @default.
• W2015001973 hasConcept C2780495277 @default.
• W2015001973 hasConcept C2781083543 @default.
• W2015001973 hasConcept C28859421 @default.
• W2015001973 hasConcept C501734568 @default.
• W2015001973 hasConcept C54355233 @default.
• W2015001973 hasConcept C71924100 @default.
• W2015001973 hasConcept C75563809 @default.
• W2015001973 hasConcept C86803240 @default.
• W2015001973 hasConceptScore W2015001973C104317684 @default.
• W2015001973 hasConceptScore W2015001973C118552586 @default.
• W2015001973 hasConceptScore W2015001973C123249941 @default.
• W2015001973 hasConceptScore W2015001973C126322002 @default.
• W2015001973 hasConceptScore W2015001973C126838900 @default.
• W2015001973 hasConceptScore W2015001973C142724271 @default.
• W2015001973 hasConceptScore W2015001973C143409427 @default.
• W2015001973 hasConceptScore W2015001973C187212893 @default.
• W2015001973 hasConceptScore W2015001973C204232928 @default.
• W2015001973 hasConceptScore W2015001973C24586158 @default.
• W2015001973 hasConceptScore W2015001973C2775833069 @default.
• W2015001973 hasConceptScore W2015001973C2775934546 @default.
• W2015001973 hasConceptScore W2015001973C2778186239 @default.
• W2015001973 hasConceptScore W2015001973C2778461778 @default.
• W2015001973 hasConceptScore W2015001973C2779134260 @default.
• W2015001973 hasConceptScore W2015001973C2779546488 @default.
• W2015001973 hasConceptScore W2015001973C2779799828 @default.
• W2015001973 hasConceptScore W2015001973C2779999465 @default.
• W2015001973 hasConceptScore W2015001973C2780495277 @default.
• W2015001973 hasConceptScore W2015001973C2781083543 @default.
• W2015001973 hasConceptScore W2015001973C28859421 @default.
• W2015001973 hasConceptScore W2015001973C501734568 @default.
• W2015001973 hasConceptScore W2015001973C54355233 @default.
• W2015001973 hasConceptScore W2015001973C71924100 @default.
• W2015001973 hasConceptScore W2015001973C75563809 @default.
• W2015001973 hasConceptScore W2015001973C86803240 @default.
• W2015001973 hasIssue "4" @default.
• W2015001973 hasLocation W20150019731 @default.
• W2015001973 hasLocation W20150019732 @default.

• next