FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2106576054> ?p ?o ?g. }

• W2106576054 abstract "Cholesterol ester storage disease (CESD) is an autosomal recessive disorder caused by deficient lysosomal acid lipase (LAL) activity, resulting in cholesteryl ester (CE) accumulation. CESD patients have liver disease associated with mixed dyslipidemia leading to liver failure. We here report the case of an 11-year-old male CESD patient with a novel mutation who had the chief complaint of massive hepatomegaly. The patient's liver reached to his pelvis, and his spleen was 2 cm below the costal margin. The patient had elevated serum liver enzymes and mixed dyslipidemia. The liver biopsy tissue showed characteristic CESD pathology, which included microvesicular steatosis, mild fibrosis and foamy macrophages. Electron microscopy showed a remnant cleft of CE crystals, and dried blood spot testing showed reduced LAL activity. We identified compound heterozygous mutations in the LIPA gene in this patient, namely, c.607G>C and c.791T>C. The former mutation was previously reported only in a Japanese patient, whereas the latter mutation is novel. The findings of this study suggest that LIPA gene mutations in Japanese CESD patients are different from those in Western patients. Although CESD is rare, it is likely that many patients are unrecognized or misdiagnosed, and thus the possibility of CESD should be considered in patients with hepatosplenomegaly and dyslipidemia." @default.
• W2106576054 created "2016-06-24" @default.
• W2106576054 creator A5000058070 @default.
• W2106576054 creator A5004809623 @default.
• W2106576054 creator A5021824059 @default.
• W2106576054 creator A5045412710 @default.
• W2106576054 creator A5052189964 @default.
• W2106576054 creator A5061984117 @default.
• W2106576054 creator A5077318947 @default.
• W2106576054 creator A5078779925 @default.
• W2106576054 creator A5083957581 @default.
• W2106576054 date "2015-09-18" @default.
• W2106576054 modified "2023-09-23" @default.
• W2106576054 title "Cholesterol ester storage disease with a novelLIPAmutation (L264P) that presented massive hepatomegaly: A case report" @default.
• W2106576054 cites W1776371275 @default.
• W2106576054 cites W1924663576 @default.
• W2106576054 cites W1995292072 @default.
• W2106576054 cites W2005582693 @default.
• W2106576054 cites W2013451767 @default.
• W2106576054 cites W2020128971 @default.
• W2106576054 cites W2023984562 @default.
• W2106576054 cites W2029185488 @default.
• W2106576054 cites W2049525176 @default.
• W2106576054 cites W2061100651 @default.
• W2106576054 cites W2063204960 @default.
• W2106576054 cites W2073190508 @default.
• W2106576054 cites W2080241641 @default.
• W2106576054 cites W2092278506 @default.
• W2106576054 cites W2093722439 @default.
• W2106576054 cites W2111116659 @default.
• W2106576054 cites W2115072601 @default.
• W2106576054 cites W2162395347 @default.
• W2106576054 doi "https://doi.org/10.1111/hepr.12574" @default.
• W2106576054 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26385844" @default.
• W2106576054 hasPublicationYear "2015" @default.
• W2106576054 type Work @default.
• W2106576054 sameAs 2106576054 @default.
• W2106576054 citedByCount "6" @default.
• W2106576054 countsByYear W21065760542016 @default.
• W2106576054 countsByYear W21065760542017 @default.
• W2106576054 countsByYear W21065760542018 @default.
• W2106576054 countsByYear W21065760542019 @default.
• W2106576054 countsByYear W21065760542022 @default.
• W2106576054 crossrefType "journal-article" @default.
• W2106576054 hasAuthorship W2106576054A5000058070 @default.
• W2106576054 hasAuthorship W2106576054A5004809623 @default.
• W2106576054 hasAuthorship W2106576054A5021824059 @default.
• W2106576054 hasAuthorship W2106576054A5045412710 @default.
• W2106576054 hasAuthorship W2106576054A5052189964 @default.
• W2106576054 hasAuthorship W2106576054A5061984117 @default.
• W2106576054 hasAuthorship W2106576054A5077318947 @default.
• W2106576054 hasAuthorship W2106576054A5078779925 @default.
• W2106576054 hasAuthorship W2106576054A5083957581 @default.
• W2106576054 hasConcept C104317684 @default.
• W2106576054 hasConcept C126322002 @default.
• W2106576054 hasConcept C142724271 @default.
• W2106576054 hasConcept C2775934546 @default.
• W2106576054 hasConcept C2776175330 @default.
• W2106576054 hasConcept C2777075537 @default.
• W2106576054 hasConcept C2777766500 @default.
• W2106576054 hasConcept C2778096610 @default.
• W2106576054 hasConcept C2778772119 @default.
• W2106576054 hasConcept C2779134260 @default.
• W2106576054 hasConcept C2779440204 @default.
• W2106576054 hasConcept C501734568 @default.
• W2106576054 hasConcept C54355233 @default.
• W2106576054 hasConcept C71924100 @default.
• W2106576054 hasConcept C86803240 @default.
• W2106576054 hasConcept C90924648 @default.
• W2106576054 hasConceptScore W2106576054C104317684 @default.
• W2106576054 hasConceptScore W2106576054C126322002 @default.
• W2106576054 hasConceptScore W2106576054C142724271 @default.
• W2106576054 hasConceptScore W2106576054C2775934546 @default.
• W2106576054 hasConceptScore W2106576054C2776175330 @default.
• W2106576054 hasConceptScore W2106576054C2777075537 @default.
• W2106576054 hasConceptScore W2106576054C2777766500 @default.
• W2106576054 hasConceptScore W2106576054C2778096610 @default.
• W2106576054 hasConceptScore W2106576054C2778772119 @default.
• W2106576054 hasConceptScore W2106576054C2779134260 @default.
• W2106576054 hasConceptScore W2106576054C2779440204 @default.
• W2106576054 hasConceptScore W2106576054C501734568 @default.
• W2106576054 hasConceptScore W2106576054C54355233 @default.
• W2106576054 hasConceptScore W2106576054C71924100 @default.
• W2106576054 hasConceptScore W2106576054C86803240 @default.
• W2106576054 hasConceptScore W2106576054C90924648 @default.
• W2106576054 hasLocation W21065760541 @default.
• W2106576054 hasLocation W21065760542 @default.
• W2106576054 hasOpenAccess W2106576054 @default.
• W2106576054 hasPrimaryLocation W21065760541 @default.
• W2106576054 hasRelatedWork W1971113224 @default.
• W2106576054 hasRelatedWork W1973698024 @default.
• W2106576054 hasRelatedWork W1981123805 @default.
• W2106576054 hasRelatedWork W2002287207 @default.
• W2106576054 hasRelatedWork W2022418798 @default.
• W2106576054 hasRelatedWork W2058577875 @default.
• W2106576054 hasRelatedWork W2066103645 @default.
• W2106576054 hasRelatedWork W2067406823 @default.
• W2106576054 hasRelatedWork W2088108212 @default.
• W2106576054 hasRelatedWork W2097065088 @default.
• W2106576054 hasRelatedWork W2133266675 @default.

• next