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Genotype correlates with the natural history of severe bile salt export pump deficiency

dc.contributor.authorJacquemin, Emmanuel
dc.contributor.authorNicastro, Emanuele
dc.contributor.authorKelly, Deirdre A.
dc.contributor.authorNebbia, Gabriella
dc.contributor.authorArnell, Henrik
dc.contributor.authorFischler, Bjoern
dc.contributor.authorHulscher, Jan B. F.
dc.contributor.authorSerranti, Daniele
dc.contributor.authorArikan, Cigdem
dc.contributor.authorPolat, Esra
dc.contributor.authorDebray, Dominique
dc.contributor.authorLacaille, Florence
dc.contributor.authorGoncalves, Cristina
dc.contributor.authorHierro, Loreto
dc.contributor.authorBartolo, Gema Munoz
dc.contributor.authorMozer-Glassberg, Yael
dc.contributor.authorAzaz, Amer
dc.contributor.authorBrecelj, Jernej
dc.contributor.authorDezsofi, Antal
dc.contributor.authorCalvo, Pier Luigi
dc.contributor.authorGrabhorn, Enke
dc.contributor.authorSturm, Ekkehard
dc.contributor.authorvan der Woerd, Wendy J.
dc.contributor.authorKamath, Binita M.
dc.contributor.authorWang, Jian-She
dc.contributor.authorLi, Liting
dc.contributor.authorDurmaz, Oezlem
dc.contributor.authorOnal, Zerrin
dc.contributor.authorBunt, Ton M. G.
dc.contributor.authorHansen, Bettina E.
dc.contributor.authorVerkade, Henkjan J.
dc.contributor.authorvan Wessel, Daan B. E.
dc.contributor.authorThompson, Richard J.
dc.contributor.authorGonzales, Emmanuel
dc.contributor.authorJankowska, Irena
dc.contributor.authorSokal, Etienne
dc.contributor.authorGrammatikopoulos, Tassos
dc.contributor.authorKadaristiana, Agustina
dc.contributor.authorSpraul, Anne
dc.contributor.authorLipinski, Patryk
dc.contributor.authorCzubkowski, Piotr
dc.contributor.authorRock, Nathalie
dc.contributor.authorShagrani, Mohammad
dc.contributor.authorBroering, Dieter
dc.contributor.authorAlgoufi, Talal
dc.contributor.authorMazhar, Nejat
dc.date.accessioned2021-03-02T17:44:07Z
dc.date.available2021-03-02T17:44:07Z
dc.date.issued2020
dc.identifier.citationvan Wessel D. B. E. , Thompson R. J. , Gonzales E., Jankowska I., Sokal E., Grammatikopoulos T., Kadaristiana A., Jacquemin E., Spraul A., Lipinski P., et al., "Genotype correlates with the natural history of severe bile salt export pump deficiency", JOURNAL OF HEPATOLOGY, cilt.73, ss.84-93, 2020
dc.identifier.issn0168-8278
dc.identifier.othervv_1032021
dc.identifier.otherav_bcca8e16-0029-4953-814f-30c88df31936
dc.identifier.urihttp://hdl.handle.net/20.500.12627/4397
dc.identifier.urihttps://doi.org/10.1016/j.jhep.2020.02.007
dc.description.abstractBackground & Aims: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes following surgical biliary diversion (SBD), remain elusive. We aimed to determine these associations by assembling the largest genetically defined cohort of patients with severe BSEP deficiency to date.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectGastroenteroloji-(Hepatoloji)
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectGASTROENTEROLOJİ VE HEPATOLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.titleGenotype correlates with the natural history of severe bile salt export pump deficiency
dc.typeMakale
dc.relation.journalJOURNAL OF HEPATOLOGY
dc.contributor.departmentUniversity of Groningen , ,
dc.identifier.volume73
dc.identifier.issue1
dc.identifier.startpage84
dc.identifier.endpage93
dc.contributor.firstauthorID2284856


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