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Clinical and genetic definition of serum bilirubin levels for the diagnosis of Gilbert syndrome and hypobilirubinemia

Title: Clinical and genetic definition of serum bilirubin levels for the diagnosis of Gilbert syndrome and hypobilirubinemia
Authors: Poynard, Thierry; Deckmyn, Olivier; Peta, Valentina; Sakka, Mehdi; Lebray, Pascal; Moussalli, Joseph; Pais, Raluca; Housset, Chantal; Ratziu, Vlad; Pasmant, Eric; Thabut, Dominique
Source: Hepatology Communications ; volume 7, issue 10 ; ISSN 2471-254X
Publisher Information: Ovid Technologies (Wolters Kluwer Health)
Publication Year: 2023
Description: Background and Aims: Gilbert syndrome (GS) is genotypically predetermined by UGT1A1 *28 homozygosity in Europeans and is phenotypically defined by hyperbilirubinemia using total bilirubin (TB) cutoff ≥1mg/dL (17 μmol/L). The prevalence of illnesses associated with GS and hypobilirubinemia has never been studied prospectively. As TB varies with UGT1A1 *28 genotyping, sex, and age, we propose stratified definitions of TB reference intervals and report the prevalence of illnesses and adjusted 15 years survival. Methods: UK Biobank with apparently healthy liver participants (middle-aged, n=138,125) were analyzed after the exclusion of of nonhealthy individuals. The stratified TB was classified as GS when TB >90th centile;
Document Type: article in journal/newspaper
Language: English
DOI: 10.1097/hc9.0000000000000245
DOI: 10.1097/HC9.0000000000000245
Availability: https://doi.org/10.1097/hc9.0000000000000245; https://journals.lww.com/10.1097/HC9.0000000000000245
Rights: http://creativecommons.org/licenses/by-nc-nd/4.0/ http://creativecommons.org/licenses/by-nc-nd/4.0/
Accession Number: edsbas.6A7BF3DD
Database: BASE