The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium
Antonia Felzen(University Medical Center Groningen), Mathias Ruiz, Emmanuel Gonzalès(Université Paris-Sud), Esra Polat, Amer Azaz(Shaikh Khalifa Medical City), Ryan Fischer(Children's Mercy Hospital), Özlem Durmaz(Istanbul University), Seema Alam(Institute of Liver and Biliary Sciences), Tassos Grammatikopoulos(King's College London), Dieter C. Bröering(Universität Hamburg), Yael Mozer Glassberg, Björn Fischler(Karolinska University Hospital), Henrik Arnell(Karolinska University Hospital), Patryk Lipiński(Children's Memorial Health Institute), JBF Hulscher, Daniele Serranti(Università Cattolica del Sacro Cuore), Cristina Gonçalves(Hospital de Santa Maria), Daan van Wessel(Vifor Pharma (United States)), Enke Grabhorn(Universität Hamburg), Étienne Sokal(Cliniques Universitaires Saint-Luc), Emanuele Nicastro(Ospedale Papa Giovanni XXIII), Nejat Mazhar(King Faisal Specialist Hospital & Research Centre), Wendy van der Woerd, Nathalie Rock(Hôpital de l'enfance), Mohammad Shagrani(Alfaisal University), Agustina Kadaristiana(King's College London), Çiğdem Arıkan(Medizinische Hochschule Hannover), Jian‐She Wang(Children's Hospital of Fudan University), Pier Luigi Calvo(University of Turin), Dominique Debray(Hôpital Necker-Enfants Malades), Marianne Hørby Jørgensen, Piotr Czubkowski(Children's Memorial Health Institute), Jernej Brecelj(University of Ljubljana), Ekkehard Sturm(University Children's Hospital Tübingen), Antal Dezsőfi(Semmelweis University), Binita M. Kamath(Children's Hospital of Philadelphia), Florence Lacaille(Hôpital Necker-Enfants Malades), Loreto Hierro(Hospital Universitario La Paz), Irena Jankowska(Children's Memorial Health Institute), Anne Spraul(Université Paris-Sud), Emmanuel Jacquemin(Inserm), Carolina Jiménez‐Rivera(Children's Hospital of Eastern Ontario), Nanda Kerkar(Harvard University), Gabriella Nebbia(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Mara Cananzi(University of Padua), Liting Li(Sun Yat-sen University), Talal Algoufi(King Faisal Specialist Hospital & Research Centre), Gema Muñoz Bartolo(Hospital Universitario La Paz), Richard F. Thompson(Canadian VIGOUR Centre), Déirdre Kelly(Princess Margaret Cancer Centre)
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