A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?

Autor: Biolato M; Department of Medical and Surgical Sciences, CEMAD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Terranova R; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Viceconti N; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Marrone G; Department of Medical and Surgical Sciences, CEMAD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Miele L; Department of Medical and Surgical Sciences, CEMAD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Giustiniani MC; Department of Medical and Surgical Sciences, CEMAD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Francalanci P; Department of Pathology, Children's Hospital Bambino Gesù IRCCS, Rome, Italy., Gazzellone A; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Bauleo A; BIOGENET, Medical and Forensic Genetics Laboratory, Cosenza, Italy., Falcone E; BIOGENET, Medical and Forensic Genetics Laboratory, Cosenza, Italy., Genuardi M; Department of Medical and Surgical Sciences, CEMAD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy., Grieco A; Department of Medical and Surgical Sciences, CEMAD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Department of Translational Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy.
Jazyk: angličtina
Zdroj: Gastroenterology report [Gastroenterol Rep (Oxf)] 2024 Apr 25; Vol. 12, pp. goae022. Date of Electronic Publication: 2024 Apr 25 (Print Publication: 2024).
DOI: 10.1093/gastro/goae022
Abstrakt: Competing Interests: A.G. received a grant from Albireo Pharma Inc. The remaining authors have no conflicts of interest to disclose.
Databáze: MEDLINE