Matches in SemOpenAlex for { <https://semopenalex.org/work/W2020592980> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W2020592980 endingPage "373" @default.
- W2020592980 startingPage "370" @default.
- W2020592980 abstract "We herein report on a Japanese boy with infantile neuronal ceroid lipofuscinosis (INCL). He was born of incest to a girl and her maternal uncle. His development was normal at 12 months, and began to display regression at 14 months. He lost his social smile and tracking eye movement at 16 months, and could not stand and developed severe hypotonic tetraplegia at 19 months. Myoclonic movement was observed in his trunk, eye and extremities. His height, body weight and head circumstance had been normal. Both MRI and CT scans of his head showed severe cerebral, cerebellar and brainstem atrophy. The electroretinogram showed a decrease in amplitude. Enzyme studies revealed a deficiency of palmitoyl-protein thioesterase activity in his lymphocytes at 0.98 nmol/h/mg protein (control: 90.99 ± 34.23). This is the first case of INCL in Japan diagnosed by enzyme activity deficiency." @default.
- W2020592980 created "2016-06-24" @default.
- W2020592980 creator A5002392716 @default.
- W2020592980 creator A5004177660 @default.
- W2020592980 creator A5015978858 @default.
- W2020592980 creator A5024117802 @default.
- W2020592980 creator A5028106653 @default.
- W2020592980 creator A5040888877 @default.
- W2020592980 creator A5050221386 @default.
- W2020592980 creator A5066885048 @default.
- W2020592980 date "2008-05-01" @default.
- W2020592980 modified "2023-09-27" @default.
- W2020592980 title "Infantile neuronal ceroid lipofuscinosis: The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency" @default.
- W2020592980 cites W1546743612 @default.
- W2020592980 cites W1963819382 @default.
- W2020592980 cites W1970047246 @default.
- W2020592980 cites W2003671736 @default.
- W2020592980 cites W2024277489 @default.
- W2020592980 cites W2057762366 @default.
- W2020592980 cites W2073031260 @default.
- W2020592980 cites W2074696689 @default.
- W2020592980 cites W2084327844 @default.
- W2020592980 cites W2141415279 @default.
- W2020592980 doi "https://doi.org/10.1016/j.braindev.2007.09.008" @default.
- W2020592980 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17980993" @default.
- W2020592980 hasPublicationYear "2008" @default.
- W2020592980 type Work @default.
- W2020592980 sameAs 2020592980 @default.
- W2020592980 citedByCount "3" @default.
- W2020592980 countsByYear W20205929802012 @default.
- W2020592980 countsByYear W20205929802016 @default.
- W2020592980 countsByYear W20205929802018 @default.
- W2020592980 crossrefType "journal-article" @default.
- W2020592980 hasAuthorship W2020592980A5002392716 @default.
- W2020592980 hasAuthorship W2020592980A5004177660 @default.
- W2020592980 hasAuthorship W2020592980A5015978858 @default.
- W2020592980 hasAuthorship W2020592980A5024117802 @default.
- W2020592980 hasAuthorship W2020592980A5028106653 @default.
- W2020592980 hasAuthorship W2020592980A5040888877 @default.
- W2020592980 hasAuthorship W2020592980A5050221386 @default.
- W2020592980 hasAuthorship W2020592980A5066885048 @default.
- W2020592980 hasConcept C126322002 @default.
- W2020592980 hasConcept C134018914 @default.
- W2020592980 hasConcept C186198217 @default.
- W2020592980 hasConcept C187212893 @default.
- W2020592980 hasConcept C2778650512 @default.
- W2020592980 hasConcept C2779134260 @default.
- W2020592980 hasConcept C2781172350 @default.
- W2020592980 hasConcept C551621295 @default.
- W2020592980 hasConcept C71924100 @default.
- W2020592980 hasConceptScore W2020592980C126322002 @default.
- W2020592980 hasConceptScore W2020592980C134018914 @default.
- W2020592980 hasConceptScore W2020592980C186198217 @default.
- W2020592980 hasConceptScore W2020592980C187212893 @default.
- W2020592980 hasConceptScore W2020592980C2778650512 @default.
- W2020592980 hasConceptScore W2020592980C2779134260 @default.
- W2020592980 hasConceptScore W2020592980C2781172350 @default.
- W2020592980 hasConceptScore W2020592980C551621295 @default.
- W2020592980 hasConceptScore W2020592980C71924100 @default.
- W2020592980 hasIssue "5" @default.
- W2020592980 hasLocation W20205929801 @default.
- W2020592980 hasLocation W20205929802 @default.
- W2020592980 hasOpenAccess W2020592980 @default.
- W2020592980 hasPrimaryLocation W20205929801 @default.
- W2020592980 hasRelatedWork W1978431399 @default.
- W2020592980 hasRelatedWork W1983321239 @default.
- W2020592980 hasRelatedWork W2020426708 @default.
- W2020592980 hasRelatedWork W2039570934 @default.
- W2020592980 hasRelatedWork W2058732905 @default.
- W2020592980 hasRelatedWork W2069514271 @default.
- W2020592980 hasRelatedWork W2080389973 @default.
- W2020592980 hasRelatedWork W2085055194 @default.
- W2020592980 hasRelatedWork W2095269303 @default.
- W2020592980 hasRelatedWork W3175915871 @default.
- W2020592980 hasVolume "30" @default.
- W2020592980 isParatext "false" @default.
- W2020592980 isRetracted "false" @default.
- W2020592980 magId "2020592980" @default.
- W2020592980 workType "article" @default.