Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
Contributeurs/tricesFelzen, Antonia![orcid](assets/images/orcid.png)
; van Wessel, Daan B E; Gonzales, Emmanuel; Thompson, Richard J![orcid](assets/images/orcid.png)
; Jankowska, Irena; Shneider, Benjamin L![orcid](assets/images/orcid.png)
; Sokal, Etienne; Grammatikopoulos, Tassos![orcid](assets/images/orcid.png)
; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipiński, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B F; Serranti, Daniele![orcid](assets/images/orcid.png)
; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsőfi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J; Kamath, Binita M; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Kerkar, Nanda; Jørgensen, Marianne Hørby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordoñez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M; Sokol, Ronald J![orcid](assets/images/orcid.png)
; Suchy, Frederick J; Loomes, Kathleen M; McKiernan, Patrick J; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A; Wang, Kasper; Hansen, Bettina E; Verkade, Henkjan J![orcid](assets/images/orcid.png)
; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium
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Publié dansJHEP reports, vol. 5, no. 2, 100626
Date de publication2023-02
Date de mise en ligne2022-11-16
Résumé
Mots-clés
- ABCB11, ATP-binding cassette, sub-family B member 11
- ALT, alanine aminotransferase
- AST, aspartate aminotransferase
- BSEP
- BSEP, bile salt export pump
- ChiLDReN, Childhood Liver Disease Research Network
- GGT, gamma-glutamyltransferase
- HCC, hepatocellular carcinoma
- LTx, liver transplantation
- NAPPED, NAtural course and Prognosis of PFIC and Effect of biliary Diversion
- NLS, native liver survival
- PFIC2
- PFIC2, progressive familial intrahepatic cholestasis type 2
- PPTM, predicted protein truncating mutation
- REDCap, Research Electronic Data Capture
- TSB, total serum bilirubin
- UDCA, ursodeoxycholic acid
- Compound heterozygosity
- Genotype
- Interruption of the enterohepatic circulation
- Phenotype
- SBAs, serum bile acids
- SiEHC, surgical interruption of the enterohepatic circulation
Structure d'affiliation
Groupe de recherche
Citation (format ISO)
FELZEN, Antonia et al. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency. In: JHEP reports, 2023, vol. 5, n° 2, p. 100626. doi: 10.1016/j.jhepr.2022.100626
Fichiers principaux (1)
Article (Published version)
Identifiants
- PID : unige:173863
- DOI : 10.1016/j.jhepr.2022.100626
- PMID : 36687469
- PMCID : PMC9852554
ISSN du journal2589-5559