Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366333090> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W4366333090 abstract "Hurler syndrome is a rare autosomal recessive disorder of deficiency in the metabolism of glycosaminoglycans (GAGs), including heparan sulfate and dermatan sulfate, which consequently accumulate in the different organs of the body, resulting from deficiency of an enzyme named Alpha-L-iduronidase. Here, we present an interesting case of a young female patient who presented with a combination of skeletal, oro-facial, ophthalmologic, neurological, and radiological findings of this disease. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made late in the disease due to lack of facilities, and the patient was ultimately managed supportively." @default.
- W4366333090 created "2023-04-20" @default.
- W4366333090 creator A5019078609 @default.
- W4366333090 creator A5050650682 @default.
- W4366333090 creator A5051581292 @default.
- W4366333090 creator A5077323871 @default.
- W4366333090 creator A5088040246 @default.
- W4366333090 date "2023-04-18" @default.
- W4366333090 modified "2023-10-05" @default.
- W4366333090 title "Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report" @default.
- W4366333090 cites W1977499972 @default.
- W4366333090 cites W1985193566 @default.
- W4366333090 cites W2011387232 @default.
- W4366333090 cites W2020409398 @default.
- W4366333090 cites W2041954226 @default.
- W4366333090 cites W2095367866 @default.
- W4366333090 cites W2096542653 @default.
- W4366333090 cites W2120799989 @default.
- W4366333090 cites W2140584979 @default.
- W4366333090 cites W2147798737 @default.
- W4366333090 cites W2156621878 @default.
- W4366333090 cites W2171316646 @default.
- W4366333090 cites W2312413018 @default.
- W4366333090 cites W2517615555 @default.
- W4366333090 doi "https://doi.org/10.7759/cureus.37785" @default.
- W4366333090 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37213966" @default.
- W4366333090 hasPublicationYear "2023" @default.
- W4366333090 type Work @default.
- W4366333090 citedByCount "0" @default.
- W4366333090 crossrefType "journal-article" @default.
- W4366333090 hasAuthorship W4366333090A5019078609 @default.
- W4366333090 hasAuthorship W4366333090A5050650682 @default.
- W4366333090 hasAuthorship W4366333090A5051581292 @default.
- W4366333090 hasAuthorship W4366333090A5077323871 @default.
- W4366333090 hasAuthorship W4366333090A5088040246 @default.
- W4366333090 hasBestOaLocation W43663330901 @default.
- W4366333090 hasConcept C105702510 @default.
- W4366333090 hasConcept C126322002 @default.
- W4366333090 hasConcept C142724271 @default.
- W4366333090 hasConcept C153074725 @default.
- W4366333090 hasConcept C187212893 @default.
- W4366333090 hasConcept C2776225084 @default.
- W4366333090 hasConcept C2777636572 @default.
- W4366333090 hasConcept C2778041096 @default.
- W4366333090 hasConcept C2778066728 @default.
- W4366333090 hasConcept C2779134260 @default.
- W4366333090 hasConcept C2779416428 @default.
- W4366333090 hasConcept C2779701055 @default.
- W4366333090 hasConcept C2779969927 @default.
- W4366333090 hasConcept C2910509766 @default.
- W4366333090 hasConcept C2910638406 @default.
- W4366333090 hasConcept C2910727661 @default.
- W4366333090 hasConcept C71924100 @default.
- W4366333090 hasConceptScore W4366333090C105702510 @default.
- W4366333090 hasConceptScore W4366333090C126322002 @default.
- W4366333090 hasConceptScore W4366333090C142724271 @default.
- W4366333090 hasConceptScore W4366333090C153074725 @default.
- W4366333090 hasConceptScore W4366333090C187212893 @default.
- W4366333090 hasConceptScore W4366333090C2776225084 @default.
- W4366333090 hasConceptScore W4366333090C2777636572 @default.
- W4366333090 hasConceptScore W4366333090C2778041096 @default.
- W4366333090 hasConceptScore W4366333090C2778066728 @default.
- W4366333090 hasConceptScore W4366333090C2779134260 @default.
- W4366333090 hasConceptScore W4366333090C2779416428 @default.
- W4366333090 hasConceptScore W4366333090C2779701055 @default.
- W4366333090 hasConceptScore W4366333090C2779969927 @default.
- W4366333090 hasConceptScore W4366333090C2910509766 @default.
- W4366333090 hasConceptScore W4366333090C2910638406 @default.
- W4366333090 hasConceptScore W4366333090C2910727661 @default.
- W4366333090 hasConceptScore W4366333090C71924100 @default.
- W4366333090 hasLocation W43663330901 @default.
- W4366333090 hasLocation W43663330902 @default.
- W4366333090 hasOpenAccess W4366333090 @default.
- W4366333090 hasPrimaryLocation W43663330901 @default.
- W4366333090 hasRelatedWork W1572142576 @default.
- W4366333090 hasRelatedWork W2015597043 @default.
- W4366333090 hasRelatedWork W2159157292 @default.
- W4366333090 hasRelatedWork W2170123554 @default.
- W4366333090 hasRelatedWork W2604371438 @default.
- W4366333090 hasRelatedWork W3028013931 @default.
- W4366333090 hasRelatedWork W3128228216 @default.
- W4366333090 hasRelatedWork W4233593821 @default.
- W4366333090 hasRelatedWork W4285019818 @default.
- W4366333090 hasRelatedWork W4366333090 @default.
- W4366333090 isParatext "false" @default.
- W4366333090 isRetracted "false" @default.
- W4366333090 workType "article" @default.