Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891882111> ?p ?o ?g. }
Showing items 1 to 92 of
92
with 100 items per page.
- W2891882111 abstract "PNPLA2 gene mutations cause neutral lipid storage disease with myopathy (NLSD-M) or cardiomyopathies. The clinical phenotype, blood test results, imaging examination and gene analysis can be used to improve the understanding of NLSD-M, reduce the misdiagnosis rate and prevent physical disability and even premature death. We report a Chinese child with NLSD-M presenting with marked asymmetric skeletal myopathy and hypertrophic cardiomyopathy. Blood biochemical tests revealed increased creatine kinase levels, and echocardiography revealed a diffuse and thick left ventricular wall. Gene analysis revealed a homozygous mutation c.155C > G (p.Thr52Arg) in PNPLA2. An understanding of the characteristic features is essential for the early diagnosis of NLSD-M. Our data expand the allelic spectrum of PNPLA2 mutations, providing further evidence for genetic and clinical NLSD-M heterogeneity in younger individuals." @default.
- W2891882111 created "2018-09-27" @default.
- W2891882111 creator A5011522548 @default.
- W2891882111 creator A5014232912 @default.
- W2891882111 date "2018-09-17" @default.
- W2891882111 modified "2023-10-16" @default.
- W2891882111 title "Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy" @default.
- W2891882111 cites W1765894495 @default.
- W2891882111 cites W1969903775 @default.
- W2891882111 cites W1974852706 @default.
- W2891882111 cites W1984816421 @default.
- W2891882111 cites W2010426240 @default.
- W2891882111 cites W2023089966 @default.
- W2891882111 cites W2029318573 @default.
- W2891882111 cites W2037182175 @default.
- W2891882111 cites W2039956544 @default.
- W2891882111 cites W2041800371 @default.
- W2891882111 cites W2044766648 @default.
- W2891882111 cites W2055651091 @default.
- W2891882111 cites W2069292073 @default.
- W2891882111 cites W2070334276 @default.
- W2891882111 cites W2080092593 @default.
- W2891882111 cites W2145546208 @default.
- W2891882111 cites W2168322970 @default.
- W2891882111 cites W2226691434 @default.
- W2891882111 cites W2578522107 @default.
- W2891882111 doi "https://doi.org/10.1186/s12881-018-0683-9" @default.
- W2891882111 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6142338" @default.
- W2891882111 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30223778" @default.
- W2891882111 hasPublicationYear "2018" @default.
- W2891882111 type Work @default.
- W2891882111 sameAs 2891882111 @default.
- W2891882111 citedByCount "5" @default.
- W2891882111 countsByYear W28918821112021 @default.
- W2891882111 countsByYear W28918821112022 @default.
- W2891882111 countsByYear W28918821112023 @default.
- W2891882111 crossrefType "journal-article" @default.
- W2891882111 hasAuthorship W2891882111A5011522548 @default.
- W2891882111 hasAuthorship W2891882111A5014232912 @default.
- W2891882111 hasBestOaLocation W28918821111 @default.
- W2891882111 hasConcept C104317684 @default.
- W2891882111 hasConcept C126322002 @default.
- W2891882111 hasConcept C142724271 @default.
- W2891882111 hasConcept C2777300911 @default.
- W2891882111 hasConcept C2778198053 @default.
- W2891882111 hasConcept C2778797674 @default.
- W2891882111 hasConcept C2780185194 @default.
- W2891882111 hasConcept C2780673598 @default.
- W2891882111 hasConcept C2994225774 @default.
- W2891882111 hasConcept C47042493 @default.
- W2891882111 hasConcept C501734568 @default.
- W2891882111 hasConcept C54355233 @default.
- W2891882111 hasConcept C60644358 @default.
- W2891882111 hasConcept C71924100 @default.
- W2891882111 hasConcept C86803240 @default.
- W2891882111 hasConceptScore W2891882111C104317684 @default.
- W2891882111 hasConceptScore W2891882111C126322002 @default.
- W2891882111 hasConceptScore W2891882111C142724271 @default.
- W2891882111 hasConceptScore W2891882111C2777300911 @default.
- W2891882111 hasConceptScore W2891882111C2778198053 @default.
- W2891882111 hasConceptScore W2891882111C2778797674 @default.
- W2891882111 hasConceptScore W2891882111C2780185194 @default.
- W2891882111 hasConceptScore W2891882111C2780673598 @default.
- W2891882111 hasConceptScore W2891882111C2994225774 @default.
- W2891882111 hasConceptScore W2891882111C47042493 @default.
- W2891882111 hasConceptScore W2891882111C501734568 @default.
- W2891882111 hasConceptScore W2891882111C54355233 @default.
- W2891882111 hasConceptScore W2891882111C60644358 @default.
- W2891882111 hasConceptScore W2891882111C71924100 @default.
- W2891882111 hasConceptScore W2891882111C86803240 @default.
- W2891882111 hasIssue "1" @default.
- W2891882111 hasLocation W28918821111 @default.
- W2891882111 hasLocation W28918821112 @default.
- W2891882111 hasLocation W28918821113 @default.
- W2891882111 hasLocation W28918821114 @default.
- W2891882111 hasOpenAccess W2891882111 @default.
- W2891882111 hasPrimaryLocation W28918821111 @default.
- W2891882111 hasRelatedWork W2000243941 @default.
- W2891882111 hasRelatedWork W2036266938 @default.
- W2891882111 hasRelatedWork W2074794746 @default.
- W2891882111 hasRelatedWork W2094163354 @default.
- W2891882111 hasRelatedWork W2103801174 @default.
- W2891882111 hasRelatedWork W2382362179 @default.
- W2891882111 hasRelatedWork W2413134257 @default.
- W2891882111 hasRelatedWork W2679691699 @default.
- W2891882111 hasRelatedWork W2754494996 @default.
- W2891882111 hasRelatedWork W3159291618 @default.
- W2891882111 hasVolume "19" @default.
- W2891882111 isParatext "false" @default.
- W2891882111 isRetracted "false" @default.
- W2891882111 magId "2891882111" @default.
- W2891882111 workType "article" @default.