Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Autor: Felzen A; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands., van Wessel DBE; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands., Gonzales E; Pediatric Hepatology & Pediatric Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, Filière de Santé des Maladies Rares du Foie de l'enfant et de l'adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Paris, France.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; INSERM, UMR-S 1193, Hepatinov, Université Paris-Saclay, Orsay, France., Thompson RJ; Institute of Liver Studies, King's College London, London, United Kingdom., Jankowska I; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Shneider BL; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Childhood Liver Disease Research Network (ChiLDReN)., Sokal E; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastorenterology and Hepatology, Université Catholique de Louvain, Cliniques St Luc, Brussels, Belgium., Grammatikopoulos T; Institute of Liver Studies, King's College London, London, United Kingdom., Kadaristiana A; Institute of Liver Studies, King's College London, London, United Kingdom., Jacquemin E; Pediatric Hepatology & Pediatric Liver Transplant Department, Centre de Référence de l'Atrésie des Voies Biliaires et des Cholestases Génétiques, Filière de Santé des Maladies Rares du Foie de l'enfant et de l'adulte, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Paris, France.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; INSERM, UMR-S 1193, Hepatinov, Université Paris-Saclay, Orsay, France., Spraul A; INSERM, UMR-S 1193, Hepatinov, Université Paris-Saclay, Orsay, France.; Service de Biochemie, Bicêtre Hôspital, AP-HP, Université Paris-Sud, Paris-Saclay, Inserm UMR-S 1174, France., Lipiński P; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Czubkowski P; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland., Rock N; Pediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Pediatric Specialties, Department of Pediatrics, Gynecology and Obstetrics, University Hospitals of Geneva, Switzerland., Shagrani M; Liver & SB Transplant & Hepatobiliary-Pancreatic Surgery, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; Alfaisal University, College of Medicine, Riyadh, Saudi Arabia., Broering D; Liver & SB Transplant & Hepatobiliary-Pancreatic Surgery, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia., Nicastro E; Pediatric Hepatology, Gastroenterology and Transplantation, ASST Papa Giovanni XXIII, Bergamo, Italy., Kelly D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Liver Unit, Birmingham Women's and Children's Hospital, Birmingham, United Kingdom., Nebbia G; Servizio Di Epatologia e Nutrizione Pediatrica, Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Arnell H; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastroenterology Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden., Fischler B; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastroenterology Hepatology and Nutrition, Astrid Lindgren Children's Hospital, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden., Hulscher JBF; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Surgery, University Medical Center Groningen, Groningen, the Netherlands., Serranti D; Pediatric and Liver Unit, Meyer Children's University Hospital of Florence, Florence, Italy., Arikan C; Koc University School of Medicine, Pediatric GI and Hepatology Liver Transplantation Center, Kuttam System in Liver Medicine, Istanbul, Turkey., Polat E; Pediatric Gastroenterology, Sancaktepe Training and Research Hospital, Istanbul, Turkey., Debray D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology-Hepatology-Nutrition Unit, APHP-Necker Enfants Malades University Hospital, Paris, France., Lacaille F; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Gastroenterology-Hepatology-Nutrition Unit, APHP-Necker Enfants Malades University Hospital, Paris, France., Goncalves C; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Previously Coimbra University Hospital Center, Coimbra, Portugal, Now Pediatric Gastroenterology/Hepatology Center Lisbon, Portugal., Hierro L; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Service of Pediatric Hepatology and Transplantation, Children's Hospital La Paz, La Paz University Hospital, Madrid, Spain., Muñoz Bartolo G; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Service of Pediatric Hepatology and Transplantation, Children's Hospital La Paz, La Paz University Hospital, Madrid, Spain., Mozer-Glassberg Y; Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Azaz A; Pediatric Gastroenterology, Hepatology and Nutrition, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Brecelj J; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital Ljubljana, and Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Dezsőfi A; Department of Pediatrics, Semmelweis University, Budapest, Hungary., Calvo PL; Pediatic Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera Città Della Salute e Della Scienza University Hospital, Turin, Italy., Grabhorn E; Pediatric Hepatology and Liver Transplantation, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Hartleif S; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Gastroenterology and Hepatology, University Children's Hospital Tυ¨bingen, University Medical Center Tυ¨bingen, Tυ¨bingen, Germany., van der Woerd WJ; Pediatric Gastroenterology, Hepatology and Nutrition, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Kamath BM; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Division of Gastroenterology, Hepatology and Nutrition, The Hospital for Sick Children and the University of Toronto, Toronto, Canada., Wang JS; Children's Hospital of Fudan University, Shanghai, China., Li L; Children's Hospital of Fudan University, Shanghai, China., Durmaz Ö; Department of Child Health and Diseases, Gastroenterology, Hepatology and Nutrition, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kerkar N; Pediatric Gastroenterology, Hepatology and Nutrition, University of Rochester Medical Center, Rochester, NY, USA., Jørgensen MH; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Department of Pediatrics and Adolescent Medicine, Rigshospitalet Copenhagen University Hospital, Copenhagen, Denmark., Fischer R; Pediatric Gastroenterology, Hepatology and Nutrition, Children's Mercy Hospital, Kansas City, MO, USA., Jimenez-Rivera C; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada., Alam S; Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India., Cananzi M; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy., Laverdure N; Service de Gastroentérologie, Hépatologie et Nutrition Pédiatriques, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Lyon, France., Ferreira CT; Pediatric Gastroenterology, Hospital da Criança Santo Antônio, Porto Allegre, Brazil., Guerrero FO; Pediatric Gastroenterology and Hepatology, Fundación Cardioinfantil Instituto de Cardiologia, Bogotá, Colombia., Wang H; DDC Clinic - Center for Special Needs Children, Adolescent Medicine and Pediatrics, Middlefield, OH, USA., Sency V; DDC Clinic - Center for Special Needs Children, Adolescent Medicine and Pediatrics, Middlefield, OH, USA., Kim KM; Department of Pediatrics, Asan Medical Center Children's Hospital, Seoul, South Korea., Chen HL; Division of Pediatric Gastroenterology, Hepatology and Nutrition, National Taiwan University Children's Hospital, Taipei, Taiwan., de Carvalho E; Pediatric Gastroenterology and Hepatology, Brasília Children's Hospital, Brasilia, Brazil., Fabre A; INSERM, MMG, Aix Marseille University, Marseille, France.; Service de Pédiatrie Multidisciplinaire, Timone Enfant, Marseille, France., Bernabeu JQ; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).; Pediatric Hepatology and Liver Transplant Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Zellos A; First Department of Pediatrics, Aghia Sophia Children's Hospital, National and Kapodistrian University of Athens, Greece., Alonso EM; Childhood Liver Disease Research Network (ChiLDReN).; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Ann & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).; Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Suchy FJ; Childhood Liver Disease Research Network (ChiLDReN).; Section of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Loomes KM; Childhood Liver Disease Research Network (ChiLDReN).; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McKiernan PJ; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatric Gastroenterology and Hepatology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Rosenthal P; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatrics and Surgery, UCSF Benioff Children's Hospital, University of California San Francisco School of Medicine, San Francisco, CA, USA., Turmelle Y; Childhood Liver Disease Research Network (ChiLDReN).; Section of Hepatology, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA., Horslen S; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatric Gastroenterology and Hepatology, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Schwarz K; Childhood Liver Disease Research Network (ChiLDReN).; Division of Pediatric Gastroenterology, University of California San Diego, Rady Children's Hospital San Diego, CA, USA., Bezerra JA; Childhood Liver Disease Research Network (ChiLDReN).; Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Wang K; Childhood Liver Disease Research Network (ChiLDReN).; Division of General Pediatric Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA., Hansen BE; Toronto Center for Liver Disease, University Health Network, Toronto, Canada.; IHPME, University of Toronto, Toronto, Canada.; Department of Gastroenterology and Hepatology, Erasmus University Medical Center, Rotterdam, the Netherlands., Verkade HJ; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands.; European Reference Network on Hepatological Diseases (ERN RARE-LIVER).

Publikováno v: JHEP reports : innovation in hepatology [JHEP Rep] 2022 Nov 16; Vol. 5 (2), pp. 100626. Date of Electronic Publication: 2022 Nov 16 (Print Publication: 2023).