FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2083891609> ?p ?o ?g. }

• W2083891609 endingPage "624" @default.
• W2083891609 startingPage "621" @default.
• W2083891609 abstract "Le syndrome d’Hermansky-Pudlak (HPS) est une affection rare autosomique récessive caractérisée par un albinisme et une dysfonction plaquettaire. Certains malades présentent aussi des dépôts céroïdes, une fibrose pulmonaire et une colite granulomateuse. Le lien entre la granulomatose colique et une éventuelle maladie de Crohn est discuté. Nous rapportons l’observation originale d’une malade atteinte d’HPS associé à une maladie inflammatoire chronique iléale et sans atteinte colique. L’iléite était sévère et récidivait rapidement après une résection iléale chirurgicale. La recherche des mutations HPS1, ADTB3A, HPS3, HPS4 et CARD15 était négative. Les symptômes et lésions iléales ulcérées ayant récidivé après la chirurgie étaient traités par une association d’azathioprine et d’infliximab. Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction. A subset of patients also show ceroid deposition, which can result in pulmonary fibrosis or granulomatous colitis. Whether this colitis may be considered Crohn's disease is under debate. We report a case of a patient with HPS associated with inflammatory bowel disease which affected the distal small bowel but not the colon. Ileitis was severe, and recurred rapidly after surgery. Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative. Symptoms and ileal ulcerations which recurred after surgery were successfully treated with azathioprine and infliximab." @default.
• W2083891609 created "2016-06-24" @default.
• W2083891609 creator A5005766008 @default.
• W2083891609 creator A5030654528 @default.
• W2083891609 creator A5066266631 @default.
• W2083891609 creator A5069297528 @default.
• W2083891609 creator A5070527248 @default.
• W2083891609 creator A5086550680 @default.
• W2083891609 creator A5087883382 @default.
• W2083891609 date "2006-04-01" @default.
• W2083891609 modified "2023-10-05" @default.
• W2083891609 title "Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome" @default.
• W2083891609 cites W134957199 @default.
• W2083891609 cites W1535022681 @default.
• W2083891609 cites W1550555606 @default.
• W2083891609 cites W1569754777 @default.
• W2083891609 cites W1642457845 @default.
• W2083891609 cites W168978644 @default.
• W2083891609 cites W1835149745 @default.
• W2083891609 cites W1969371325 @default.
• W2083891609 cites W1976749251 @default.
• W2083891609 cites W1978982003 @default.
• W2083891609 cites W1981974890 @default.
• W2083891609 cites W2001814436 @default.
• W2083891609 cites W2007053526 @default.
• W2083891609 cites W2012153447 @default.
• W2083891609 cites W2022275011 @default.
• W2083891609 cites W2026654715 @default.
• W2083891609 cites W2035191492 @default.
• W2083891609 cites W2038635329 @default.
• W2083891609 cites W2072566861 @default.
• W2083891609 cites W2077210675 @default.
• W2083891609 cites W2085940317 @default.
• W2083891609 cites W2094983148 @default.
• W2083891609 cites W2104092563 @default.
• W2083891609 cites W2114202394 @default.
• W2083891609 cites W2334019448 @default.
• W2083891609 cites W4253506771 @default.
• W2083891609 cites W4366194311 @default.
• W2083891609 doi "https://doi.org/10.1016/s0399-8320(06)73239-0" @default.
• W2083891609 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16733390" @default.
• W2083891609 hasPublicationYear "2006" @default.
• W2083891609 type Work @default.
• W2083891609 sameAs 2083891609 @default.
• W2083891609 citedByCount "10" @default.
• W2083891609 countsByYear W20838916092019 @default.
• W2083891609 countsByYear W20838916092021 @default.
• W2083891609 countsByYear W20838916092022 @default.
• W2083891609 countsByYear W20838916092023 @default.
• W2083891609 crossrefType "journal-article" @default.
• W2083891609 hasAuthorship W2083891609A5005766008 @default.
• W2083891609 hasAuthorship W2083891609A5030654528 @default.
• W2083891609 hasAuthorship W2083891609A5066266631 @default.
• W2083891609 hasAuthorship W2083891609A5069297528 @default.
• W2083891609 hasAuthorship W2083891609A5070527248 @default.
• W2083891609 hasAuthorship W2083891609A5086550680 @default.
• W2083891609 hasAuthorship W2083891609A5087883382 @default.
• W2083891609 hasConcept C126322002 @default.
• W2083891609 hasConcept C142724271 @default.
• W2083891609 hasConcept C2775862500 @default.
• W2083891609 hasConcept C2776760755 @default.
• W2083891609 hasConcept C2777129736 @default.
• W2083891609 hasConcept C2777138892 @default.
• W2083891609 hasConcept C2778260677 @default.
• W2083891609 hasConcept C2779084869 @default.
• W2083891609 hasConcept C2779134260 @default.
• W2083891609 hasConcept C2779280984 @default.
• W2083891609 hasConcept C2779778433 @default.
• W2083891609 hasConcept C2780559512 @default.
• W2083891609 hasConcept C2780941987 @default.
• W2083891609 hasConcept C2781244666 @default.
• W2083891609 hasConcept C71924100 @default.
• W2083891609 hasConcept C90924648 @default.
• W2083891609 hasConceptScore W2083891609C126322002 @default.
• W2083891609 hasConceptScore W2083891609C142724271 @default.
• W2083891609 hasConceptScore W2083891609C2775862500 @default.
• W2083891609 hasConceptScore W2083891609C2776760755 @default.
• W2083891609 hasConceptScore W2083891609C2777129736 @default.
• W2083891609 hasConceptScore W2083891609C2777138892 @default.
• W2083891609 hasConceptScore W2083891609C2778260677 @default.
• W2083891609 hasConceptScore W2083891609C2779084869 @default.
• W2083891609 hasConceptScore W2083891609C2779134260 @default.
• W2083891609 hasConceptScore W2083891609C2779280984 @default.
• W2083891609 hasConceptScore W2083891609C2779778433 @default.
• W2083891609 hasConceptScore W2083891609C2780559512 @default.
• W2083891609 hasConceptScore W2083891609C2780941987 @default.
• W2083891609 hasConceptScore W2083891609C2781244666 @default.
• W2083891609 hasConceptScore W2083891609C71924100 @default.
• W2083891609 hasConceptScore W2083891609C90924648 @default.
• W2083891609 hasIssue "4" @default.
• W2083891609 hasLocation W20838916091 @default.
• W2083891609 hasLocation W20838916092 @default.
• W2083891609 hasOpenAccess W2083891609 @default.
• W2083891609 hasPrimaryLocation W20838916091 @default.
• W2083891609 hasRelatedWork W2010845986 @default.
• W2083891609 hasRelatedWork W2067163776 @default.
• W2083891609 hasRelatedWork W2115797209 @default.
• W2083891609 hasRelatedWork W2131396592 @default.

• next