van Wessel, Daan B EDaan B Evan WesselThompson, Richard JRichard JThompsonGonzales, EmmanuelEmmanuelGonzalesJankowska, IrenaIrenaJankowskaShneider, Benjamin LBenjamin LShneiderSokal, EtienneEtienneSokalGrammatikopoulos, TassosTassosGrammatikopoulosKadaristiana, AgustinaAgustinaKadaristianaJacquemin, EmmanuelEmmanuelJacqueminSpraul, AnneAnneSpraulLipiński, PatrykPatrykLipińskiCzubkowski, PiotrPiotrCzubkowskiRock, NathalieNathalieRockShagrani, MohammadMohammadShagraniBroering, DieterDieterBroeringAlgoufi, TalalTalalAlgoufiMazhar, NejatNejatMazharNicastro, EmanueleEmanueleNicastroKelly, DeirdreDeirdreKellyNebbia, GabriellaGabriellaNebbiaArnell, HenrikHenrikArnellFischler, BjörnBjörnFischlerHulscher, Jan B FJan B FHulscherSerranti, DanieleDanieleSerrantiArikan, CigdemCigdemArikanDebray, DominiqueDominiqueDebrayLacaille, FlorenceFlorenceLacailleGoncalves, CristinaCristinaGoncalvesHierro, LoretoLoretoHierroMuñoz Bartolo, GemaGemaMuñoz BartoloMozer-Glassberg, YaelYaelMozer-GlassbergAzaz, AmerAmerAzazBrecelj, JernejJernejBreceljDezsőfi, AntalAntalDezsőfiLuigi Calvo, PierPierLuigi CalvoKrebs-Schmitt, DorotheeDorotheeKrebs-SchmittHartleif, SteffenSteffenHartleifvan der Woerd, Wendy LWendy Lvan der WoerdWang, Jian-SheJian-SheWangLi, Li-TingLi-TingLiDurmaz, ÖzlemÖzlemDurmazKerkar, NandaNandaKerkarHørby Jørgensen, MarianneMarianneHørby JørgensenFischer, RyanRyanFischerJimenez-Rivera, CarolinaCarolinaJimenez-RiveraAlam, SeemaSeemaAlamCananzi, MaraMaraCananziLaverdure, NoémieNoémieLaverdureTarga Ferreira, CristinaCristinaTarga FerreiraOrdonez, FelipeFelipeOrdonezWang, HengHengWangSency, ValerieValerieSencyMo Kim, KyungKyungMo KimHUEY-LING CHENCarvalho, ElisaElisaCarvalhoFabre, AlexandreAlexandreFabreQuintero Bernabeu, JesusJesusQuintero BernabeuAlonso, Estella MEstella MAlonsoSokol, Ronald JRonald JSokolSuchy, Frederick JFrederick JSuchyLoomes, Kathleen MKathleen MLoomesMcKiernan, Patrick JPatrick JMcKiernanRosenthal, PhilipPhilipRosenthalTurmelle, YumirleYumirleTurmelleRao, Girish SGirish SRaoHorslen, SimonSimonHorslenKamath, Binita MBinita MKamathRogalidou, MariaMariaRogalidouKarnsakul, Wikrom WWikrom WKarnsakulHansen, BettinaBettinaHansenVerkade, Henkjan JHenkjan JVerkade2022-02-242022-02-2420210270-91391527-3350https://scholars.lib.ntu.edu.tw/handle/123456789/595741Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date.enFAMILIAL INTRAHEPATIC CHOLESTASIS; SALT EXPORT PUMP; ABCB11 MUTATIONS; ATP8B1 GENE; TYPE-1; PFIC1; EXPRESSION; CHILDREN; DISEASE[SDGs]SDG3adult; adulthood; article; bile acid blood level; controlled study; female; frameshift mutation; gene deletion; genotype; heterozygosity; history; homozygosity; human; human tissue; liver; major clinical study; male; multicenter study; nonsense mutation; prognosis; prospective study; retrospective study; survival analysis; adolescent; blood; child; clinical trial; follow up; genetics; infant; intrahepatic bile duct; intrahepatic cholestasis; liver transplantation; mortality; preschool child; procedures; risk assessment; stop codon; treatment outcome; young adult; adenosine triphosphatase; ATP8B1 protein, human; bile acid; Adenosine Triphosphatases; Adolescent; Bile Acids and Salts; Bile Ducts, Intrahepatic; Child; Child, Preschool; Cholestasis, Intrahepatic; Codon, Nonsense; Female; Follow-Up Studies; Humans; Infant; Liver Transplantation; Male; Prognosis; Prospective Studies; Retrospective Studies; Risk Assessment; Survival Analysis; Treatment Outcome; Young Adultjournal article10.1002/hep.3178733666275WOS:000672522700001