Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895441145> ?p ?o ?g. }
- W2895441145 endingPage "23" @default.
- W2895441145 startingPage "13" @default.
- W2895441145 abstract "This review offers an update on a group of inborn errors of metabolism causing severe epilepsy with the onset in pediatric age (but also other neurological manifestations such as developmental delay or movement disorders) with available effective or potentially effective treatments. The main pathogenic and clinical features and general recommendations for the diagnostic and therapeutic workup of the following disorders are discussed: vitamin B6-dependent epilepsies, cerebral folate deficiency, congenital disorders of serine metabolism, biotinidase deficiency, inborn errors of creatine metabolism, molybdenum cofactor deficiency, and glucose transporter 1 deficiency. Available treatments are more effective on epileptic manifestations (with the possibility of complete seizure control) and motor symptoms, whereas the benefits on cognitive outcome are usually minor." @default.
- W2895441145 created "2018-10-12" @default.
- W2895441145 creator A5026589292 @default.
- W2895441145 date "2018-06-15" @default.
- W2895441145 modified "2023-09-23" @default.
- W2895441145 title "Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy." @default.
- W2895441145 cites W1484225186 @default.
- W2895441145 cites W154865194 @default.
- W2895441145 cites W1774006014 @default.
- W2895441145 cites W1828134606 @default.
- W2895441145 cites W1917239456 @default.
- W2895441145 cites W1963835108 @default.
- W2895441145 cites W1965900960 @default.
- W2895441145 cites W1967388816 @default.
- W2895441145 cites W1989500165 @default.
- W2895441145 cites W1990036972 @default.
- W2895441145 cites W1996094824 @default.
- W2895441145 cites W1996854292 @default.
- W2895441145 cites W2007527010 @default.
- W2895441145 cites W2035085726 @default.
- W2895441145 cites W2045791079 @default.
- W2895441145 cites W2060975471 @default.
- W2895441145 cites W2066430647 @default.
- W2895441145 cites W2083479403 @default.
- W2895441145 cites W2084524384 @default.
- W2895441145 cites W2093957608 @default.
- W2895441145 cites W2104607636 @default.
- W2895441145 cites W2108435240 @default.
- W2895441145 cites W2116409637 @default.
- W2895441145 cites W2135114355 @default.
- W2895441145 cites W2139477236 @default.
- W2895441145 cites W2139950207 @default.
- W2895441145 cites W2140333559 @default.
- W2895441145 cites W2150924058 @default.
- W2895441145 cites W2152779240 @default.
- W2895441145 cites W2157116018 @default.
- W2895441145 cites W2159117659 @default.
- W2895441145 cites W2161260608 @default.
- W2895441145 cites W2169426431 @default.
- W2895441145 cites W2266046252 @default.
- W2895441145 cites W2173242010 @default.
- W2895441145 doi "https://doi.org/10.4103/jpn.jpn_160_16" @default.
- W2895441145 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5982487" @default.
- W2895441145 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29899766" @default.
- W2895441145 hasPublicationYear "2018" @default.
- W2895441145 type Work @default.
- W2895441145 sameAs 2895441145 @default.
- W2895441145 citedByCount "6" @default.
- W2895441145 countsByYear W28954411452020 @default.
- W2895441145 countsByYear W28954411452021 @default.
- W2895441145 countsByYear W28954411452023 @default.
- W2895441145 crossrefType "journal-article" @default.
- W2895441145 hasAuthorship W2895441145A5026589292 @default.
- W2895441145 hasConcept C118552586 @default.
- W2895441145 hasConcept C134018914 @default.
- W2895441145 hasConcept C185592680 @default.
- W2895441145 hasConcept C187212893 @default.
- W2895441145 hasConcept C2776169613 @default.
- W2895441145 hasConcept C2778038050 @default.
- W2895441145 hasConcept C2778186239 @default.
- W2895441145 hasConcept C2779375456 @default.
- W2895441145 hasConcept C2779646400 @default.
- W2895441145 hasConcept C2780912031 @default.
- W2895441145 hasConcept C515207424 @default.
- W2895441145 hasConcept C551499885 @default.
- W2895441145 hasConcept C55493867 @default.
- W2895441145 hasConcept C60644358 @default.
- W2895441145 hasConcept C71924100 @default.
- W2895441145 hasConcept C86803240 @default.
- W2895441145 hasConceptScore W2895441145C118552586 @default.
- W2895441145 hasConceptScore W2895441145C134018914 @default.
- W2895441145 hasConceptScore W2895441145C185592680 @default.
- W2895441145 hasConceptScore W2895441145C187212893 @default.
- W2895441145 hasConceptScore W2895441145C2776169613 @default.
- W2895441145 hasConceptScore W2895441145C2778038050 @default.
- W2895441145 hasConceptScore W2895441145C2778186239 @default.
- W2895441145 hasConceptScore W2895441145C2779375456 @default.
- W2895441145 hasConceptScore W2895441145C2779646400 @default.
- W2895441145 hasConceptScore W2895441145C2780912031 @default.
- W2895441145 hasConceptScore W2895441145C515207424 @default.
- W2895441145 hasConceptScore W2895441145C551499885 @default.
- W2895441145 hasConceptScore W2895441145C55493867 @default.
- W2895441145 hasConceptScore W2895441145C60644358 @default.
- W2895441145 hasConceptScore W2895441145C71924100 @default.
- W2895441145 hasConceptScore W2895441145C86803240 @default.
- W2895441145 hasIssue "1" @default.
- W2895441145 hasLocation W28954411451 @default.
- W2895441145 hasOpenAccess W2895441145 @default.
- W2895441145 hasPrimaryLocation W28954411451 @default.
- W2895441145 hasRelatedWork W1576138579 @default.
- W2895441145 hasRelatedWork W2125712542 @default.
- W2895441145 hasRelatedWork W2395648986 @default.
- W2895441145 hasRelatedWork W2413760136 @default.
- W2895441145 hasRelatedWork W2465268546 @default.
- W2895441145 hasRelatedWork W2789622197 @default.
- W2895441145 hasRelatedWork W3032666215 @default.
- W2895441145 hasRelatedWork W3217621814 @default.
- W2895441145 hasRelatedWork W4213433224 @default.