Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012802919> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2012802919 abstract "Hurler syndrome is a rare lysosomal storage disorder with a prevalence of 1 in 100 000. It is caused by a defective IDUA gene which codes for α-L iduronidase and has an autosomal recessive inheritance. Enzyme deficiency results in accumulation of dermatan and heparan sulfate in multiple tissues which leads to progressive deterioration and eventual death.The condition manifests with profound intellectual disability, corneal clouding, cardiac disease and characteristic musculoskeletal manifestations. …" @default.
- W2012802919 created "2016-06-24" @default.
- W2012802919 creator A5001197605 @default.
- W2012802919 creator A5059339637 @default.
- W2012802919 creator A5077429117 @default.
- W2012802919 creator A5087854900 @default.
- W2012802919 date "2013-03-25" @default.
- W2012802919 modified "2023-09-28" @default.
- W2012802919 title "Hurler syndrome (Mucopolysaccharidosis type I)" @default.
- W2012802919 cites W1491093078 @default.
- W2012802919 cites W1965891675 @default.
- W2012802919 cites W2045372828 @default.
- W2012802919 doi "https://doi.org/10.1136/bcr-2012-008148" @default.
- W2012802919 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3618758" @default.
- W2012802919 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23531928" @default.
- W2012802919 hasPublicationYear "2013" @default.
- W2012802919 type Work @default.
- W2012802919 sameAs 2012802919 @default.
- W2012802919 citedByCount "4" @default.
- W2012802919 countsByYear W20128029192014 @default.
- W2012802919 countsByYear W20128029192015 @default.
- W2012802919 countsByYear W20128029192018 @default.
- W2012802919 countsByYear W20128029192020 @default.
- W2012802919 crossrefType "journal-article" @default.
- W2012802919 hasAuthorship W2012802919A5001197605 @default.
- W2012802919 hasAuthorship W2012802919A5059339637 @default.
- W2012802919 hasAuthorship W2012802919A5077429117 @default.
- W2012802919 hasAuthorship W2012802919A5087854900 @default.
- W2012802919 hasBestOaLocation W20128029191 @default.
- W2012802919 hasConcept C104317684 @default.
- W2012802919 hasConcept C126322002 @default.
- W2012802919 hasConcept C142724271 @default.
- W2012802919 hasConcept C187212893 @default.
- W2012802919 hasConcept C2777557582 @default.
- W2012802919 hasConcept C2777636572 @default.
- W2012802919 hasConcept C2778041096 @default.
- W2012802919 hasConcept C2778066728 @default.
- W2012802919 hasConcept C2778264360 @default.
- W2012802919 hasConcept C2779134260 @default.
- W2012802919 hasConcept C2779416428 @default.
- W2012802919 hasConcept C2779969927 @default.
- W2012802919 hasConcept C2910509766 @default.
- W2012802919 hasConcept C2910727661 @default.
- W2012802919 hasConcept C2910862020 @default.
- W2012802919 hasConcept C54355233 @default.
- W2012802919 hasConcept C71924100 @default.
- W2012802919 hasConcept C86803240 @default.
- W2012802919 hasConceptScore W2012802919C104317684 @default.
- W2012802919 hasConceptScore W2012802919C126322002 @default.
- W2012802919 hasConceptScore W2012802919C142724271 @default.
- W2012802919 hasConceptScore W2012802919C187212893 @default.
- W2012802919 hasConceptScore W2012802919C2777557582 @default.
- W2012802919 hasConceptScore W2012802919C2777636572 @default.
- W2012802919 hasConceptScore W2012802919C2778041096 @default.
- W2012802919 hasConceptScore W2012802919C2778066728 @default.
- W2012802919 hasConceptScore W2012802919C2778264360 @default.
- W2012802919 hasConceptScore W2012802919C2779134260 @default.
- W2012802919 hasConceptScore W2012802919C2779416428 @default.
- W2012802919 hasConceptScore W2012802919C2779969927 @default.
- W2012802919 hasConceptScore W2012802919C2910509766 @default.
- W2012802919 hasConceptScore W2012802919C2910727661 @default.
- W2012802919 hasConceptScore W2012802919C2910862020 @default.
- W2012802919 hasConceptScore W2012802919C54355233 @default.
- W2012802919 hasConceptScore W2012802919C71924100 @default.
- W2012802919 hasConceptScore W2012802919C86803240 @default.
- W2012802919 hasLocation W20128029191 @default.
- W2012802919 hasLocation W20128029192 @default.
- W2012802919 hasLocation W20128029193 @default.
- W2012802919 hasLocation W20128029194 @default.
- W2012802919 hasOpenAccess W2012802919 @default.
- W2012802919 hasPrimaryLocation W20128029191 @default.
- W2012802919 hasRelatedWork W2034761333 @default.
- W2012802919 hasRelatedWork W2069941998 @default.
- W2012802919 hasRelatedWork W2129376738 @default.
- W2012802919 hasRelatedWork W2282859696 @default.
- W2012802919 hasRelatedWork W2316002237 @default.
- W2012802919 hasRelatedWork W2406871590 @default.
- W2012802919 hasRelatedWork W2408128539 @default.
- W2012802919 hasRelatedWork W2410530448 @default.
- W2012802919 hasRelatedWork W2416771965 @default.
- W2012802919 hasRelatedWork W2460345317 @default.
- W2012802919 hasRelatedWork W2490238480 @default.
- W2012802919 hasRelatedWork W2558476828 @default.
- W2012802919 hasRelatedWork W2802044573 @default.
- W2012802919 hasRelatedWork W2999644463 @default.
- W2012802919 hasRelatedWork W3006540808 @default.
- W2012802919 hasRelatedWork W3011290792 @default.
- W2012802919 hasRelatedWork W3048662907 @default.
- W2012802919 hasRelatedWork W44392011 @default.
- W2012802919 hasRelatedWork W2336417407 @default.
- W2012802919 hasRelatedWork W2561497398 @default.
- W2012802919 isParatext "false" @default.
- W2012802919 isRetracted "false" @default.
- W2012802919 magId "2012802919" @default.
- W2012802919 workType "article" @default.