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IBATs approval for the treatment of PFIC has made the early diagnosis, supported by genetic screening, even more important both for paediatric and adult patients [16, 88] cases of patients successfully treated with IBATs, both in classic form and in rarer subtypes of PFIC [47, 53], even in the absence of a solid diagnosis of PFIC or in other cholestatic diseases, such as Alagille syndrome, have been described [92] supporting the primary role of clinical diagnosis