FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014730852> ?p ?o ?g. }

• W2014730852 endingPage "535" @default.
• W2014730852 startingPage "528" @default.
• W2014730852 abstract "Lysosomal storage disorders (LSD) comprise a group of more than 40 diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. The predominant inheritance pattern is autosomal recessive except for Anderson-Fabry disease, glycogen storage disease (GSD) type IIb (Danon disease) and mucopolysaccharidosis (MPS) type II (Hunter disease). While the metabolic defects affect all cells, clinical organ involvement usually occurs only in the presence of substrate excess or metabolic pathway activation. Cardiac disease is particularly important in lysosomal glycogen storage diseases (Pompe and Danon disease), mucopolysaccharidoses and in glycosphingolipidoses (Anderson-Fabry disease). Various disease manifestations may be observed including hypertrophic and dilated cardiomyopathy, coronary artery disease and valvular disease (table 1).View this table: Table 1  Lysosomal storage disease causing cardiac diseaseAnderson-Fabry disease (AFD, synonyms Fabry disease, α-galactosidase A deficiency, angiokeratoma corporis diffusum) is an X-linked LSD caused by mutations in the gene encoding the lysosomal enzyme α-galactosidase A. The resultant deficiency in α-galactosidase A activity leads to intra-lysosomal accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3), in various organ systems. The disease is characterised by progressive clinical manifestations and premature death from renal failure, stroke and cardiac disease.1### EpidemiologyThe incidence of AFD has been estimated at 1 in 40 000 to 1 in 117 000 live births for males.1 Recently, studies in high risk patient cohorts suggest that it is much more common. The reported prevalence of AFD in patients with end-stage renal disease on haemodialysis ranges between 0.2–1.2%; in patients with cryptogenic stroke the prevalence may be as high as 4.9% in men and 2.8% in women. The prevalence of AFD in patients with heart disease varies depending on the population studied. In a survey of male patients with unexplained left ventricular hypertrophy (LVH) attending an echocardiography clinic, 3% had biochemical evidence for AFD2 …" @default.
• W2014730852 created "2016-06-24" @default.
• W2014730852 creator A5006211041 @default.
• W2014730852 creator A5075282771 @default.
• W2014730852 date "2007-04-01" @default.
• W2014730852 modified "2023-10-13" @default.
• W2014730852 title "The heart in Anderson-Fabry disease and other lysosomal storage disorders" @default.
• W2014730852 cites W1978337429 @default.
• W2014730852 cites W2022356406 @default.
• W2014730852 cites W2029848612 @default.
• W2014730852 cites W2079316384 @default.
• W2014730852 cites W2088375877 @default.
• W2014730852 cites W2094557474 @default.
• W2014730852 cites W2101425200 @default.
• W2014730852 cites W2118945535 @default.
• W2014730852 cites W2128419115 @default.
• W2014730852 cites W2134197747 @default.
• W2014730852 cites W2141677299 @default.
• W2014730852 cites W2144310582 @default.
• W2014730852 cites W2144392873 @default.
• W2014730852 cites W2147546399 @default.
• W2014730852 cites W2154062927 @default.
• W2014730852 cites W2158457377 @default.
• W2014730852 cites W2161501475 @default.
• W2014730852 cites W2313827278 @default.
• W2014730852 cites W2323571584 @default.
• W2014730852 cites W2334691957 @default.
• W2014730852 cites W4244020249 @default.
• W2014730852 doi "https://doi.org/10.1136/hrt.2005.063818" @default.
• W2014730852 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1861503" @default.
• W2014730852 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17401074" @default.
• W2014730852 hasPublicationYear "2007" @default.
• W2014730852 type Work @default.
• W2014730852 sameAs 2014730852 @default.
• W2014730852 citedByCount "200" @default.
• W2014730852 countsByYear W20147308522012 @default.
• W2014730852 countsByYear W20147308522013 @default.
• W2014730852 countsByYear W20147308522014 @default.
• W2014730852 countsByYear W20147308522015 @default.
• W2014730852 countsByYear W20147308522016 @default.
• W2014730852 countsByYear W20147308522017 @default.
• W2014730852 countsByYear W20147308522018 @default.
• W2014730852 countsByYear W20147308522019 @default.
• W2014730852 countsByYear W20147308522020 @default.
• W2014730852 countsByYear W20147308522021 @default.
• W2014730852 countsByYear W20147308522022 @default.
• W2014730852 countsByYear W20147308522023 @default.
• W2014730852 crossrefType "journal-article" @default.
• W2014730852 hasAuthorship W2014730852A5006211041 @default.
• W2014730852 hasAuthorship W2014730852A5075282771 @default.
• W2014730852 hasBestOaLocation W20147308522 @default.
• W2014730852 hasConcept C126322002 @default.
• W2014730852 hasConcept C2777404818 @default.
• W2014730852 hasConcept C2778198053 @default.
• W2014730852 hasConcept C2778264360 @default.
• W2014730852 hasConcept C2778797674 @default.
• W2014730852 hasConcept C2779134260 @default.
• W2014730852 hasConcept C2779468605 @default.
• W2014730852 hasConcept C2908579795 @default.
• W2014730852 hasConcept C71924100 @default.
• W2014730852 hasConceptScore W2014730852C126322002 @default.
• W2014730852 hasConceptScore W2014730852C2777404818 @default.
• W2014730852 hasConceptScore W2014730852C2778198053 @default.
• W2014730852 hasConceptScore W2014730852C2778264360 @default.
• W2014730852 hasConceptScore W2014730852C2778797674 @default.
• W2014730852 hasConceptScore W2014730852C2779134260 @default.
• W2014730852 hasConceptScore W2014730852C2779468605 @default.
• W2014730852 hasConceptScore W2014730852C2908579795 @default.
• W2014730852 hasConceptScore W2014730852C71924100 @default.
• W2014730852 hasIssue "4" @default.
• W2014730852 hasLocation W20147308521 @default.
• W2014730852 hasLocation W20147308522 @default.
• W2014730852 hasLocation W20147308523 @default.
• W2014730852 hasLocation W20147308524 @default.
• W2014730852 hasOpenAccess W2014730852 @default.
• W2014730852 hasPrimaryLocation W20147308521 @default.
• W2014730852 hasRelatedWork W2024112896 @default.
• W2014730852 hasRelatedWork W2043774580 @default.
• W2014730852 hasRelatedWork W2061388856 @default.
• W2014730852 hasRelatedWork W2127004229 @default.
• W2014730852 hasRelatedWork W2149584682 @default.
• W2014730852 hasRelatedWork W2904527358 @default.
• W2014730852 hasRelatedWork W3110812484 @default.
• W2014730852 hasRelatedWork W3137710633 @default.
• W2014730852 hasRelatedWork W4243747904 @default.
• W2014730852 hasRelatedWork W4307090163 @default.
• W2014730852 hasVolume "93" @default.
• W2014730852 isParatext "false" @default.
• W2014730852 isRetracted "false" @default.
• W2014730852 magId "2014730852" @default.
• W2014730852 workType "article" @default.