Urea cycle disorders and indications for liver transplantation.

Autor: García Vega M; Department of Pediatric Hepatology & Liver Transplant, Hospital Universitario La Paz & IdiPAZ, ERN Rare-Liver, ERN Trasplant Child, Madrid, Spain., Andrade JD; Department of Pediatric Nutrition and Metabolic Diseases, Hospital Universitario La Paz, Madrid, Spain., Morais A; Department of Pediatric Nutrition and Metabolic Diseases, Hospital Universitario La Paz, Madrid, Spain., Frauca E; Department of Pediatric Hepatology & Liver Transplant, Hospital Universitario La Paz & IdiPAZ, ERN Rare-Liver, ERN Trasplant Child, Madrid, Spain., Muñoz Bartolo G; Department of Pediatric Hepatology & Liver Transplant, Hospital Universitario La Paz & IdiPAZ, ERN Rare-Liver, ERN Trasplant Child, Madrid, Spain., Lledín MD; Department of Pediatric Hepatology & Liver Transplant, Hospital Universitario La Paz & IdiPAZ, ERN Rare-Liver, ERN Trasplant Child, Madrid, Spain., Bergua A; Department of Pediatric Nutrition and Metabolic Diseases, Hospital Universitario La Paz, Madrid, Spain., Hierro L; Department of Pediatric Hepatology & Liver Transplant, Hospital Universitario La Paz & IdiPAZ, ERN Rare-Liver, ERN Trasplant Child, Madrid, Spain.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Mar 03; Vol. 11, pp. 1103757. Date of Electronic Publication: 2023 Mar 03 (Print Publication: 2023).

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).

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.

Autor: Molera C; Pediatric Gastroenterology, Hepatology and Nutrition Department, Hospital Sant Joan de Déu, Universidad de Barcelona, España., Sarishvili T; Pediatric Department, Medical Center Mrcheveli, Tbilisi, Georgia., Nascimento A; Unidadde Patología Neuromuscular, Servicio de Neurología Pediátrica, Hospital Sant Joan de Déu, Universidad de Barcelona, CIBERER, España., Rtskhiladze I; Pediatric Department, Medical Center Mrcheveli, Tbilisi, Georgia., Muñoz Bartolo G; Department of Pediatric Hepatology, Hospital Universitario La Paz, Madrid, España., Fernández Cebrián S; Sección de Gastroenterología, Hepatología y Nutrición Pediátrica. Departamento de Pediatría. Complexo Hospitalario Universitario de Ourense, España., Valverde Fernández J; Sección de Gastroenterología, Hepatología y Nutrición Pediátrica UGC Pediatría. Hospital Infantil Virgen del Rocio, Sevilla, España., Muñoz Cabello B; Sección de Neuropediatría, Hospital Infantil Virgen del Rocío, Sevilla, España., Graham RJ; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Miller W; Astellas Gene Therapies, San Francisco, CA, USA., Sepulveda B; Astellas Gene Therapies, San Francisco, CA, USA., Kamath BM; The Hospital for Sick Children and University of Toronto, Toronto, Canada., Meng H; Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA., Lawlor MW; Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2022; Vol. 9 (1), pp. 73-82.

Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.

Autor: van Wessel DBE; Pediatric Gastroenterology and HepatologyUniversity Medical Center GroningenUniversity of GroningenGroningenthe Netherlands., Thompson RJ; Institute of Liver StudiesKing's College HospitalLondonUnited Kingdom., Gonzales E; Pediatric Hepatology & Pediatric Liver Transplant DepartmentCentre de Référence de l'Atrésie des Voies Biliaires et des Cholestases GénétiquesFilière de Santé des Maladies Rares du Foie de l'enfant et de l'adulteEuropean Reference Network RARE-LIVERAssistance Publique-Hôpitaux de ParisFaculté de Médecine Paris-SaclayCHU BicêtreParisFrance.; European Reference Network on Hepatological Diseases., Jankowska I; European Reference Network on Hepatological Diseases.; Gastroenterology, Hepatology, Nutritional Disorders and Pediatricsthe Children's Memorial Health InstituteWarsawPoland., Shneider BL; Division of Pediatric Gastroenterology, Hepatology, and NutritionDepartment of PediatricsBaylor College of MedicineHoustonTXUSA.; Childhood Liver Disease Research Network (ChiLDReN)., Sokal E; European Reference Network on Hepatological Diseases.; Cliniques St. LucUniversité Catholique de LouvainBrusselsBelgium., Grammatikopoulos T; Institute of Liver StudiesKing's College HospitalLondonUnited Kingdom., Kadaristiana A; Institute of Liver StudiesKing's College HospitalLondonUnited Kingdom., Jacquemin E; Pediatric Hepatology & Pediatric Liver Transplant DepartmentCentre de Référence de l'Atrésie des Voies Biliaires et des Cholestases GénétiquesFilière de Santé des Maladies Rares du Foie de l'enfant et de l'adulteEuropean Reference Network RARE-LIVERAssistance Publique-Hôpitaux de ParisFaculté de Médecine Paris-SaclayCHU BicêtreParisFrance.; INSERMUMR-S 1193Université Paris-SaclayOrsayFrance., Spraul A; INSERMUMR-S 1193Université Paris-SaclayOrsayFrance.; Biochemistry UnitCentre de Référence de l'Atrésie des Voies Biliaires et des Cholestases GénétiquesFilière de Santé des Maladies Rares du Foie de l'enfant et de l'adulteEuropean Reference Network RARE-LIVERAssistance Publique-Hôpitaux de ParisFaculté de Médecine Paris-SaclayCHU BicêtreParisFrance., Lipiński P; European Reference Network on Hepatological Diseases.; Gastroenterology, Hepatology, Nutritional Disorders and Pediatricsthe Children's Memorial Health InstituteWarsawPoland., Czubkowski P; European Reference Network on Hepatological Diseases.; Gastroenterology, Hepatology, Nutritional Disorders and Pediatricsthe Children's Memorial Health InstituteWarsawPoland., Rock N; Cliniques St. LucUniversité Catholique de LouvainBrusselsBelgium., Shagrani M; Department of Liver & SB Transplant & Hepatobiliary-Pancreatic SurgeryKing Faisal Specialist Hospital & Research CenterRiyadhSaudi Arabia.; College of MedicineAlfaisal UniversityRiyadhSaudi Arabia., Broering D; Department of Liver & SB Transplant & Hepatobiliary-Pancreatic SurgeryKing Faisal Specialist Hospital & Research CenterRiyadhSaudi Arabia., Algoufi T; Department of Liver & SB Transplant & Hepatobiliary-Pancreatic SurgeryKing Faisal Specialist Hospital & Research CenterRiyadhSaudi Arabia., Mazhar N; Department of Liver & SB Transplant & Hepatobiliary-Pancreatic SurgeryKing Faisal Specialist Hospital & Research CenterRiyadhSaudi Arabia., Nicastro E; Pediatric Hepatology, Gastroenterology and TransplantationOspedale Papa Giovanni XXIIIBergamoItaly., Kelly D; European Reference Network on Hepatological Diseases.; Liver UnitBirmingham Women's and Children's HospitalUniversity of BirminghamBirminghamUnited Kingdom., Nebbia G; Servizio Di Epatologia e Nutrizione PediatricaFondazione Irccs Ca' Granda Ospedale Maggiore PoliclinicoMilanoItaly., Arnell H; European Reference Network on Hepatological Diseases.; Pediatric Digestive DiseasesAstrid Lindgren Children's HospitalCLINTECKarolinska InstitutetKarolinska University HospitalStockholmSweden., Fischler B; European Reference Network on Hepatological Diseases.; Pediatric Digestive DiseasesAstrid Lindgren Children's HospitalCLINTECKarolinska InstitutetKarolinska University HospitalStockholmSweden., Hulscher JBF; European Reference Network on Hepatological Diseases.; Pediatric SurgeryUniversity Medical Center GroningenGroningenthe Netherlands., Serranti D; Pediatric and Liver UnitMeyer Children's University Hospital of FlorenceFlorenceItaly., Arikan C; Pediatric GI and Hepatology Liver Transplantation CenterKuttam System in Liver MedicineKoc University School of MedicineIstanbulTurkey., Debray D; Pediatric Hepatology unit, Reference Center for Biliary Atresia and Genetic Cholestatic DiseasesFilière de Santé des Maladies Rares du Foie de l'enfant et de l'adulteEuropean Reference Network RARE-LIVERAPHP-Neckler Enfants Malades University HospitalFaculté de Médecine Paris-CentreParisFrance., Lacaille F; Pediatric Hepatology unit, Reference Center for Biliary Atresia and Genetic Cholestatic DiseasesFilière de Santé des Maladies Rares du Foie de l'enfant et de l'adulteEuropean Reference Network RARE-LIVERAPHP-Neckler Enfants Malades University HospitalFaculté de Médecine Paris-CentreParisFrance., Goncalves C; European Reference Network on Hepatological Diseases.; Coimbra University Hospital CenterCoimbraPortugal., Hierro L; European Reference Network on Hepatological Diseases.; Pediatric Liver ServiceLa Paz University HospitalMadridSpain., Muñoz Bartolo G; European Reference Network on Hepatological Diseases.; Pediatric Liver ServiceLa Paz University HospitalMadridSpain., Mozer-Glassberg Y; Institute of Gastroenterology, Nutrition and Liver DiseasesSchneider Children's Medical Center of IsraelPetach TikvahIsrael., Azaz A; Sheikh Khalifa Medical CityAbu DhabiUnited Arab Emirates., Brecelj J; Department of Gastroenterology, Hepatology and NutritionUniversity Children's Hospital LjubljanaLjubljanaSlovenia.; Department of PediatricsFaculty of MedicineUniversity of LjubljanaLjubljanaSlovenia., Dezsőfi A; First Department of PediatricsSemmelweis UniversityBudapestHungary., Luigi Calvo P; Pediatic Gastroenterology UnitRegina Margherita Children's HospitalAzienda Ospedaliera Città Della Salute e Della Scienza University HospitalTorinoItaly., Krebs-Schmitt D; Klinik Für Kinder-Und JugendmedizinUniversitätsklinikum Hamburg EppendorfHamburgGermany., Hartleif S; European Reference Network on Hepatological Diseases.; University Children's Hospital TϋbingenTϋbingenGermany., van der Woerd WL; Pediatric Gastroenterology, Hepatology and NutritionWilhelmina Children's HospitalUniversity Medical Center UtrechtUtrechtthe Netherlands., Wang JS; Children's Hospital of Fudan UniversityShanghaiChina., Li LT; Children's Hospital of Fudan UniversityShanghaiChina., Durmaz Ö; Istanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey., Kerkar N; Pediatric Gastroenterology, Hepatology and NutritionUniversity of Rochester Medical CenterRochesterNYUSA., Hørby Jørgensen M; European Reference Network on Hepatological Diseases.; Pediatric and Adolescent DepartmentDepartment of Pediatrics and Adolescent MedicineRigshospitalet Copenhagen University HospitalCopenhagenDenmark., Fischer R; Section of Hepatology and Transplant MedicineChildren's Mercy HospitalKansas CityMOUSA., Jimenez-Rivera C; Department of PediatricsChildren's Hospital of Eastern OntarioUniversity of OttawaOttawaCanada., Alam S; Pediatric HepatologyInstitute of Liver and Biliary SciencesNew DelhiIndia., Cananzi M; European Reference Network on Hepatological Diseases.; Pediatric Gastroenterology and HepatologyUniversity Hospital of PadovaPadovaItaly., Laverdure N; European Reference Network on Hepatological Diseases.; Service de Gastroentérologie, Hépatologie et Nutrition PédiatriquesHospices Civils de LyonHôpital Femme Mère EnfantLyonFrance., Targa Ferreira C; Pediatric GastroenterologyHospital da Criança Santo AntônioPorto AllegreBrazil., Ordonez F; Fundación Cardioinfantil Instituto de CardiologiaPediatric Gastroenterology and HepatologyBogotáColombia., Wang H; DDC Clinic Center for Special Needs ChildrenMiddlefieldOHUSA., Sency V; DDC Clinic Center for Special Needs ChildrenMiddlefieldOHUSA., Mo Kim K; Department of PediatricsAsan Medical Center Children's HospitalSeoulSouth Korea., Chen HL; Division of Pediatric Gastroenterology, Hepatology and NutritionNational Taiwan University Children's HospitalTaipeiTaiwan., Carvalho E; Pediatric Gastroenterology and HepatologyBrasília Children's HospitalBrasiliaBrazil., Fabre A; INSERMMMGAix Marseille UniversityMarseilleFrance.; Serveice de Pédiatrie MultidisciplinaireTimone EnfantMarseilleFrance., Quintero Bernabeu J; European Reference Network on Hepatological Diseases.; Pediatric Hepatology and Liver Transplant UnitBarcelonaSpain., Alonso EM; Childhood Liver Disease Research Network (ChiLDReN).; Division of Pediatric Gastroenterology, Hepatology and NutritionAnn & Robert H. Lurie Children's HospitalChicagoILUSA., Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN).; Section of Pediatric Gastroenterology, Hepatology and NutritionDepartment of PediatricsChildren's Hospital ColoradoUniversity of Colorado School of MedicineAuroraCOUSA., Suchy FJ; Childhood Liver Disease Research Network (ChiLDReN).; Icahn School of Medicine at Mount SinaiMount Sinai Kravis Children's HospitalNew YorkNYUSA., Loomes KM; Childhood Liver Disease Research Network (ChiLDReN).; Division of Gastroenterology, Hepatology and NutritionChildren's Hospital of PhiladelphiaPhiladelphiaPAUSA., McKiernan PJ; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatric Gastroenterology and HepatologyUniversity of Pittsburgh Medical Center Children's Hospital of PittsburghPittsburghPAUSA., Rosenthal P; Childhood Liver Disease Research Network (ChiLDReN).; Department of Pediatrics and SurgeryUCSF Benioff Children's HospitalUniversity of California San Francisco School of MedicineSan FranciscoCAUSA., Turmelle Y; Childhood Liver Disease Research Network (ChiLDReN).; Section of HepatologyDepartment of PediatricsSt. Louis Children's HospitalWashington University School of MedicineSt. LouisMOUSA., Rao GS; Childhood Liver Disease Research Network (ChiLDReN).; Riley Hospital for ChildrenIndiana University School of MedicineIndianapolisINUSA., Horslen S; Childhood Liver Disease Research Network (ChiLDReN).; Department of PediatricsSeattle Children's HospitalUniversity of WashingtonSeattleWAUSA., Kamath BM; Childhood Liver Disease Research Network (ChiLDReN).; The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada., Rogalidou M; Division of Pediatric Gastroenterology & HepatologyFirst Pediatrics DepartmentUniversity of AthensAgia Sofia Children's HospitalAthensGreece., Karnsakul WW; Division of Pediatric Gastroenterology, Nutrition, and HepatologyDepartment of PediatricsJohns Hopkins University School of MedicineBaltimoreMDUSA., Hansen B; Toronto Center for Liver DiseaseUniversity Health NetworkTorontoCanada.; IHPMEUniversity of TorontoTorontoCanada., Verkade HJ; Pediatric Gastroenterology and HepatologyUniversity Medical Center GroningenUniversity of GroningenGroningenthe Netherlands.; European Reference Network on Hepatological Diseases.

Publikováno v: Hepatology (Baltimore, Md.) [Hepatology] 2021 Aug; Vol. 74 (2), pp. 892-906. Date of Electronic Publication: 2021 Jul 13.

Citrin deficiency: Early severe cases in a European country.

Autor: Fernández Tomé L; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain. Electronic address: lftome@salud.madrid.org., Stark Aroeira LG; Research Institute of Hospital La Paz (IdiPAZ), Madrid, Spain., Muñoz Bartolo G; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain., de la Vega Bueno A; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain., Camarena Grande C; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain., Frauca Remacha E; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain., Lledín Barbancho D; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain., Alós Díez M; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain., Quiles Blanco MJ; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain., Guerra L; Department of Pathology, University Hospital La Paz, Madrid, Spain., López Santamaría M; Department of Paediatric Surgery, University Hospital La Paz, Madrid, Spain., Hierro Llanillo L; Paediatric Hepatology Service, University Hospital La Paz, Madrid, Spain.

Publikováno v: Clinics and research in hepatology and gastroenterology [Clin Res Hepatol Gastroenterol] 2021 Jul; Vol. 45 (4), pp. 101595. Date of Electronic Publication: 2020 Dec 30.