Felzen, AntoniaAntoniaFelzenvan Wessel, Daan B EDaan B Evan WesselGonzales, EmmanuelEmmanuelGonzalesThompson, Richard JRichard JThompsonJankowska, IrenaIrenaJankowskaShneider, Benjamin LBenjamin LShneiderSokal, EtienneEtienneSokalGrammatikopoulos, TassosTassosGrammatikopoulosKadaristiana, AgustinaAgustinaKadaristianaJacquemin, EmmanuelEmmanuelJacqueminSpraul, AnneAnneSpraulLipiński, PatrykPatrykLipińskiCzubkowski, PiotrPiotrCzubkowskiRock, NathalieNathalieRockShagrani, MohammadMohammadShagraniBroering, DieterDieterBroeringNicastro, EmanueleEmanueleNicastroKelly, DeirdreDeirdreKellyNebbia, GabriellaGabriellaNebbiaArnell, HenrikHenrikArnellFischler, BjörnBjörnFischlerHulscher, Jan B FJan B FHulscherSerranti, DanieleDanieleSerrantiArikan, CigdemCigdemArikanPolat, EsraEsraPolatDebray, DominiqueDominiqueDebrayLacaille, FlorenceFlorenceLacailleGoncalves, CristinaCristinaGoncalvesHierro, LoretoLoretoHierroMuñoz Bartolo, GemaGemaMuñoz BartoloMozer-Glassberg, YaelYaelMozer-GlassbergAzaz, AmerAmerAzazBrecelj, JernejJernejBreceljDezsőfi, AntalAntalDezsőfiCalvo, Pier LuigiPier LuigiCalvoGrabhorn, EnkeEnkeGrabhornHartleif, SteffenSteffenHartleifvan der Woerd, Wendy JWendy Jvan der WoerdKamath, Binita MBinita MKamathWang, Jian-SheJian-SheWangLi, LitingLitingLiDurmaz, ÖzlemÖzlemDurmazKerkar, NandaNandaKerkarJørgensen, Marianne HørbyMarianne HørbyJørgensenFischer, RyanRyanFischerJimenez-Rivera, CarolinaCarolinaJimenez-RiveraAlam, SeemaSeemaAlamCananzi, MaraMaraCananziLaverdure, NoemieNoemieLaverdureFerreira, Cristina TargaCristina TargaFerreiraGuerrero, Felipe OrdoñezFelipe OrdoñezGuerreroWang, HengHengWangSency, ValerieValerieSencyKim, Kyung MoKyung MoKimHUEY-LING CHENde Carvalho, ElisaElisade CarvalhoFabre, AlexandreAlexandreFabreBernabeu, Jesus QuinteroJesus QuinteroBernabeuZellos, AglaiaAglaiaZellosAlonso, Estella MEstella MAlonsoSokol, Ronald JRonald JSokolSuchy, Frederick JFrederick JSuchyLoomes, Kathleen MKathleen MLoomesMcKiernan, Patrick JPatrick JMcKiernanRosenthal, PhilipPhilipRosenthalTurmelle, YumirleYumirleTurmelleHorslen, SimonSimonHorslenSchwarz, KathleenKathleenSchwarzBezerra, Jorge AJorge ABezerraWang, KasperKasperWangHansen, Bettina EBettina EHansenVerkade, Henkjan JHenkjan JVerkade2024-03-262024-03-262023-0225895559https://scholars.lib.ntu.edu.tw/handle/123456789/641365Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship.enABCB11, ATP-binding cassette, sub-family B member 11; ALT, alanine aminotransferase; AST, aspartate aminotransferase; BSEP; BSEP, bile salt export pump; ChiLDReN, Childhood Liver Disease Research Network; GGT, gamma-glutamyltransferase; HCC, hepatocellular carcinoma; LTx, liver transplantation; NAPPED, NAtural course and Prognosis of PFIC and Effect of biliary Diversion; NLS, native liver survival; PFIC2; PFIC2, progressive familial intrahepatic cholestasis type 2; PPTM, predicted protein truncating mutation; REDCap, Research Electronic Data Capture; TSB, total serum bilirubin; UDCA, ursodeoxycholic acid; compound heterozygosity; genotype; interruption of the enterohepatic circulation; phenotype; sBAs, serum bile acids; siEHC, surgical interruption of the enterohepatic circulation[SDGs]SDG3journal article10.1016/j.jhepr.2022.100626366874692-s2.0-85146218689https://api.elsevier.com/content/abstract/scopus_id/85146218689