Matches in SemOpenAlex for { <https://semopenalex.org/work/W2582597367> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2582597367 endingPage "e14" @default.
- W2582597367 startingPage "e14" @default.
- W2582597367 abstract "Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. The pathophysiology of HPS is mediated by single-gene defects that alter endosome trafficking, and we hypothesize that this mechanism leads to the observed association with a CD phenotype." @default.
- W2582597367 created "2017-02-03" @default.
- W2582597367 creator A5006705845 @default.
- W2582597367 creator A5049169459 @default.
- W2582597367 creator A5063018115 @default.
- W2582597367 date "2017-01-01" @default.
- W2582597367 modified "2023-09-25" @default.
- W2582597367 title "Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype" @default.
- W2582597367 cites W168978644 @default.
- W2582597367 cites W1971570520 @default.
- W2582597367 cites W2004451243 @default.
- W2582597367 cites W2009256745 @default.
- W2582597367 cites W2032024481 @default.
- W2582597367 cites W2032832545 @default.
- W2582597367 cites W2049960956 @default.
- W2582597367 cites W2086743433 @default.
- W2582597367 cites W2097352622 @default.
- W2582597367 cites W2110817313 @default.
- W2582597367 cites W2138349129 @default.
- W2582597367 cites W2140624072 @default.
- W2582597367 cites W2330083227 @default.
- W2582597367 cites W2521129278 @default.
- W2582597367 cites W2757190828 @default.
- W2582597367 cites W3049555755 @default.
- W2582597367 doi "https://doi.org/10.14309/crj.2017.14" @default.
- W2582597367 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5247631" @default.
- W2582597367 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28144619" @default.
- W2582597367 hasPublicationYear "2017" @default.
- W2582597367 type Work @default.
- W2582597367 sameAs 2582597367 @default.
- W2582597367 citedByCount "5" @default.
- W2582597367 countsByYear W25825973672019 @default.
- W2582597367 countsByYear W25825973672020 @default.
- W2582597367 countsByYear W25825973672021 @default.
- W2582597367 countsByYear W25825973672023 @default.
- W2582597367 crossrefType "journal-article" @default.
- W2582597367 hasAuthorship W2582597367A5006705845 @default.
- W2582597367 hasAuthorship W2582597367A5049169459 @default.
- W2582597367 hasAuthorship W2582597367A5063018115 @default.
- W2582597367 hasBestOaLocation W25825973671 @default.
- W2582597367 hasConcept C10162356 @default.
- W2582597367 hasConcept C104317684 @default.
- W2582597367 hasConcept C127716648 @default.
- W2582597367 hasConcept C142724271 @default.
- W2582597367 hasConcept C203014093 @default.
- W2582597367 hasConcept C2775849878 @default.
- W2582597367 hasConcept C2775902910 @default.
- W2582597367 hasConcept C2779134260 @default.
- W2582597367 hasConcept C2779280984 @default.
- W2582597367 hasConcept C2779778433 @default.
- W2582597367 hasConcept C2780559512 @default.
- W2582597367 hasConcept C2781244666 @default.
- W2582597367 hasConcept C3020646490 @default.
- W2582597367 hasConcept C54355233 @default.
- W2582597367 hasConcept C71924100 @default.
- W2582597367 hasConcept C86803240 @default.
- W2582597367 hasConcept C89560881 @default.
- W2582597367 hasConceptScore W2582597367C10162356 @default.
- W2582597367 hasConceptScore W2582597367C104317684 @default.
- W2582597367 hasConceptScore W2582597367C127716648 @default.
- W2582597367 hasConceptScore W2582597367C142724271 @default.
- W2582597367 hasConceptScore W2582597367C203014093 @default.
- W2582597367 hasConceptScore W2582597367C2775849878 @default.
- W2582597367 hasConceptScore W2582597367C2775902910 @default.
- W2582597367 hasConceptScore W2582597367C2779134260 @default.
- W2582597367 hasConceptScore W2582597367C2779280984 @default.
- W2582597367 hasConceptScore W2582597367C2779778433 @default.
- W2582597367 hasConceptScore W2582597367C2780559512 @default.
- W2582597367 hasConceptScore W2582597367C2781244666 @default.
- W2582597367 hasConceptScore W2582597367C3020646490 @default.
- W2582597367 hasConceptScore W2582597367C54355233 @default.
- W2582597367 hasConceptScore W2582597367C71924100 @default.
- W2582597367 hasConceptScore W2582597367C86803240 @default.
- W2582597367 hasConceptScore W2582597367C89560881 @default.
- W2582597367 hasIssue "1" @default.
- W2582597367 hasLocation W25825973671 @default.
- W2582597367 hasLocation W25825973672 @default.
- W2582597367 hasLocation W25825973673 @default.
- W2582597367 hasLocation W25825973674 @default.
- W2582597367 hasOpenAccess W2582597367 @default.
- W2582597367 hasPrimaryLocation W25825973671 @default.
- W2582597367 hasRelatedWork W1535212598 @default.
- W2582597367 hasRelatedWork W1972494473 @default.
- W2582597367 hasRelatedWork W2012351998 @default.
- W2582597367 hasRelatedWork W2141609127 @default.
- W2582597367 hasRelatedWork W2156450132 @default.
- W2582597367 hasRelatedWork W2281409490 @default.
- W2582597367 hasRelatedWork W2582597367 @default.
- W2582597367 hasRelatedWork W2600292455 @default.
- W2582597367 hasRelatedWork W3020075806 @default.
- W2582597367 hasRelatedWork W845708148 @default.
- W2582597367 hasVolume "4" @default.
- W2582597367 isParatext "false" @default.
- W2582597367 isRetracted "false" @default.
- W2582597367 magId "2582597367" @default.
- W2582597367 workType "article" @default.