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66 results

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Page 1
Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial.
Thompson RJ, Arnell H, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Durmaz Ö, Fischler B, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Kjems L, Lacaille F, Lachaux A, Lainka E, Mack CL, Mattsson JP, McKiernan P, Özen H, Rajwal SR, Roquelaure B, Shagrani M, Shteyer E, Soufi N, Sturm E, Tessier ME, Verkade HJ, Horn P. Thompson RJ, et al. Among authors: roquelaure b. Lancet Gastroenterol Hepatol. 2022 Sep;7(9):830-842. doi: 10.1016/S2468-1253(22)00093-0. Epub 2022 Jul 1. Lancet Gastroenterol Hepatol. 2022. PMID: 35780807 Free article. Clinical Trial.
Interim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis.
Thompson RJ, Artan R, Baumann U, Calvo PL, Czubkowski P, Dalgic B, D'Antiga L, Di Giorgio A, Durmaz Ö, Gonzalès E, Grammatikopoulos T, Gupte G, Hardikar W, Houwen RHJ, Kamath BM, Karpen SJ, Lacaille F, Lachaux A, Lainka E, Loomes KM, Mack CL, Mattsson JP, McKiernan P, Ni Q, Özen H, Rajwal SR, Roquelaure B, Shteyer E, Sokal E, Sokol RJ, Soufi N, Sturm E, Tessier ME, van der Woerd WL, Verkade HJ, Vittorio JM, Wallefors T, Warholic N, Yu Q, Horn P, Kjems L. Thompson RJ, et al. Among authors: roquelaure b. JHEP Rep. 2023 Apr 29;5(8):100782. doi: 10.1016/j.jhepr.2023.100782. eCollection 2023 Aug. JHEP Rep. 2023. PMID: 37456676 Free PMC article.
Syndromic (phenotypic) diarrhea in early infancy.
Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP. Goulet O, et al. Among authors: roquelaure b. Orphanet J Rare Dis. 2008 Feb 28;3:6. doi: 10.1186/1750-1172-3-6. Orphanet J Rare Dis. 2008. PMID: 18304370 Free PMC article. Review.
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Masson E, Ewers M, Paliwal S, Kume K, Scotet V, Cooper DN, Rebours V, Buscail L, Rouault K; GREPAN (Genetic REsearch on PANcreatitis) Study Group; Abrantes A, Aguilera Munoz L, Albouys J, Alric L, Amiot X, Archambeaud I, Audiau S, Bastide L, Baudon J, Bellaiche G, Bellon S, Bertrand V, Bideau K, Billiemaz K, Billioud C, Bonnefoy S, Borderon C, Bournet B, Breton E, Brugel M, Buscail L, Cadiot G, Camus M, Carpentier-Pourquier M, Chamouard P, Chaput U, Chen JM, Cholet F, Ciocan DM, Clavel C, Coffin B, Coimet-Berger L, Cosconea S, Creveaux I, Culetto A, Daboussi O, De Mestier L, Degand T, D'engremont C, Denis B, Dermine S, Desgrippes, Drouet D'Aubigny A, Enaud R, Fabre A, Férec C, Gargot D, Gelsi E, Gentilcore E, Gincul R, Ginglinger-Favre E, Giovannini M, Gomercic C, Gondran H, Grainville T, Grandval P, Grasset D, Grimaldi S, Grimbert S, Hagege H, Heissat S, Hentic O, Herber-Mayne A, Hervouet M, Hoibian S, Jacques J, Jais B, Kaassis M, Koch S, Lacaze E, Lacroute J, Lamireau T, Laurent L, Le Guillou X, Le Rhun M, Leblanc S, Levy P, Lievre A, Lorenzo D, Maire F, Marcel K, Masson E, Mauillon J, Morgant S, Moussata D, Muller N, Nambot S, Napoleon B, Olivier A, Pagenault M, Pelletier AL, … See abstract for full author list ➔ Masson E, et al. Among authors: roquelaure b. Pancreatology. 2023 Jan;23(1):48-56. doi: 10.1016/j.pan.2022.11.013. Epub 2022 Dec 5. Pancreatology. 2023. PMID: 36517351
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, Lemale J, Mancini J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C. Fabre A, et al. Among authors: roquelaure b. Arch Dis Child. 2014 Jan;99(1):35-8. doi: 10.1136/archdischild-2013-304016. Epub 2013 Oct 9. Arch Dis Child. 2014. PMID: 24108068
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M, Spraul A, Ruiz M, Girard M, Roquelaure B, Laborde N, Gottrand F, Turquet A, Lamireau T, Dabadie A, Bonneton M, Thebaut A, Rohmer B, Lacaille F, Broué P, Fabre A, Mention-Mulliez K, Bouligand J, Jacquemin E, Gonzales E. Almes M, et al. Among authors: roquelaure b. Diagnostics (Basel). 2022 May 7;12(5):1169. doi: 10.3390/diagnostics12051169. Diagnostics (Basel). 2022. PMID: 35626323 Free PMC article.
66 results