Matches in SemOpenAlex for { <https://semopenalex.org/work/W4220935816> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W4220935816 abstract "Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. In this article, we will discuss the case of a male infant who is 8 years and 5 months old. A whole-exome sequencing of the boy revealed CAD compound heterozygous mutations. He suffered from global developmental delay and regression, refractory epilepsy, and anemia. After his diagnosis, we used uridine treatment and gained encouraging results. In this article, we will analyze our case studies in the context of the literature, so as to improve pediatricians' understanding of the disease." @default.
- W4220935816 created "2022-04-03" @default.
- W4220935816 creator A5001629670 @default.
- W4220935816 creator A5017947172 @default.
- W4220935816 creator A5018675502 @default.
- W4220935816 creator A5040166982 @default.
- W4220935816 creator A5046981277 @default.
- W4220935816 creator A5066213432 @default.
- W4220935816 creator A5073469158 @default.
- W4220935816 creator A5085886102 @default.
- W4220935816 creator A5089377133 @default.
- W4220935816 date "2022-03-09" @default.
- W4220935816 modified "2023-09-26" @default.
- W4220935816 title "A Treatable Genetic Disease Caused by CAD Mutation" @default.
- W4220935816 cites W2056608946 @default.
- W4220935816 cites W2156307784 @default.
- W4220935816 cites W2564332693 @default.
- W4220935816 cites W3005528180 @default.
- W4220935816 cites W3028455394 @default.
- W4220935816 cites W3112550974 @default.
- W4220935816 cites W3122944664 @default.
- W4220935816 cites W3201648067 @default.
- W4220935816 doi "https://doi.org/10.3389/fped.2022.771374" @default.
- W4220935816 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35356445" @default.
- W4220935816 hasPublicationYear "2022" @default.
- W4220935816 type Work @default.
- W4220935816 citedByCount "0" @default.
- W4220935816 crossrefType "journal-article" @default.
- W4220935816 hasAuthorship W4220935816A5001629670 @default.
- W4220935816 hasAuthorship W4220935816A5017947172 @default.
- W4220935816 hasAuthorship W4220935816A5018675502 @default.
- W4220935816 hasAuthorship W4220935816A5040166982 @default.
- W4220935816 hasAuthorship W4220935816A5046981277 @default.
- W4220935816 hasAuthorship W4220935816A5066213432 @default.
- W4220935816 hasAuthorship W4220935816A5073469158 @default.
- W4220935816 hasAuthorship W4220935816A5085886102 @default.
- W4220935816 hasAuthorship W4220935816A5089377133 @default.
- W4220935816 hasBestOaLocation W42209358161 @default.
- W4220935816 hasConcept C104317684 @default.
- W4220935816 hasConcept C127716648 @default.
- W4220935816 hasConcept C142724271 @default.
- W4220935816 hasConcept C151730666 @default.
- W4220935816 hasConcept C16671776 @default.
- W4220935816 hasConcept C187212893 @default.
- W4220935816 hasConcept C2779134260 @default.
- W4220935816 hasConcept C2779343474 @default.
- W4220935816 hasConcept C2779674439 @default.
- W4220935816 hasConcept C501734568 @default.
- W4220935816 hasConcept C54355233 @default.
- W4220935816 hasConcept C71924100 @default.
- W4220935816 hasConcept C86803240 @default.
- W4220935816 hasConceptScore W4220935816C104317684 @default.
- W4220935816 hasConceptScore W4220935816C127716648 @default.
- W4220935816 hasConceptScore W4220935816C142724271 @default.
- W4220935816 hasConceptScore W4220935816C151730666 @default.
- W4220935816 hasConceptScore W4220935816C16671776 @default.
- W4220935816 hasConceptScore W4220935816C187212893 @default.
- W4220935816 hasConceptScore W4220935816C2779134260 @default.
- W4220935816 hasConceptScore W4220935816C2779343474 @default.
- W4220935816 hasConceptScore W4220935816C2779674439 @default.
- W4220935816 hasConceptScore W4220935816C501734568 @default.
- W4220935816 hasConceptScore W4220935816C54355233 @default.
- W4220935816 hasConceptScore W4220935816C71924100 @default.
- W4220935816 hasConceptScore W4220935816C86803240 @default.
- W4220935816 hasLocation W42209358161 @default.
- W4220935816 hasLocation W42209358162 @default.
- W4220935816 hasLocation W42209358163 @default.
- W4220935816 hasLocation W42209358164 @default.
- W4220935816 hasOpenAccess W4220935816 @default.
- W4220935816 hasPrimaryLocation W42209358161 @default.
- W4220935816 hasRelatedWork W2062446363 @default.
- W4220935816 hasRelatedWork W2147438501 @default.
- W4220935816 hasRelatedWork W2538525323 @default.
- W4220935816 hasRelatedWork W2891666544 @default.
- W4220935816 hasRelatedWork W2945443432 @default.
- W4220935816 hasRelatedWork W2992125635 @default.
- W4220935816 hasRelatedWork W3101156040 @default.
- W4220935816 hasRelatedWork W4205761507 @default.
- W4220935816 hasRelatedWork W4281920377 @default.
- W4220935816 hasRelatedWork W4282960689 @default.
- W4220935816 hasVolume "10" @default.
- W4220935816 isParatext "false" @default.
- W4220935816 isRetracted "false" @default.
- W4220935816 workType "article" @default.