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

van Wessel D. B. E. , Thompson R. J. , Gonzales E., Jankowska I., Sokal E., Grammatikopoulos T., ...Daha Fazla

JOURNAL OF HEPATOLOGY, cilt.73, sa.1, ss.84-93, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 73 Konu: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1016/j.jhep.2020.02.007
  • Sayfa Sayıları: ss.84-93


Background & 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.