المؤلفون: Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade

المصدر: JHEP Reports, Vol 5, Iss 2, Pp 100626- (2023)

مصطلحات موضوعية: BSEP, PFIC2, compound heterozygosity, interruption of the enterohepatic circulation, genotype, phenotype, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555922001987; https://doaj.org/toc/2589-5559

URL الوصول: https://doaj.org/article/bbb97439dbff47198444dd0e83e7f0cb

المؤلفون: Maria M. Rojas-Rojas, Jacqueline Mugnier-Quijano, David A. Suarez-Zamora, Felipe Ordoñez-Guerrero, Rocío del Pilar López-Panqueva

المصدر: Revista Española de Patología. 56:113-118

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Cholesterol, Microvesicular Steatosis, Cathepsin D, Enzyme replacement therapy, Lysosomal acid lipase deficiency, medicine.disease, Pathology and Forensic Medicine, Transaminase, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, chemistry, Fibrosis, 030220 oncology & carcinogenesis, Internal medicine, Cholesteryl ester, medicine, 030211 gastroenterology & hepatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ee8b0c3e66532e9b29f568fd9d82b2c2
https://doi.org/10.1016/j.patol.2021.03.005

المؤلفون: Ana Maria Acevedo Forero, Jairo Rivera Baquero, Carlos Andrés Benavides Viveros, Felipe Ordoñez Guerrero, Claudia Marcela Salinas Jaimes, Pedro A. Barrera Lopez, Helen Dayan Pava Acosta, Gilberto Andres Mejia Hernandez

المصدر: Transplantation. 102:S848

مصطلحات موضوعية: Transplantation, medicine.medical_specialty, business.industry, Family medicine, Medicine, Developing country, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a6d0aef247ac8f72d6cd8ed98d8a8f2a
https://doi.org/10.1097/01.tp.0000543913.64104.50

المؤلفون: Helen Dayan Pava Acosta, Claudia Marcela Salinas Jaimes, Pedro A. Barrera Lopez, Gilberto Andres Mejia Hernandez, Jairo Rivera Baquero, Carlos Andrés Benavides Viveros, Ana Maria Acevedo Forero, Felipe Ordoñez Guerrero

المصدر: Transplantation. 102:S614

مصطلحات موضوعية: Transplantation, Pediatrics, medicine.medical_specialty, business.industry, medicine.medical_treatment, medicine, Liver transplantation, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5111c9ebc7b45519e54b2610b58a1bcd
https://doi.org/10.1097/01.tp.0000543513.24132.86

المؤلفون: Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade

المساهمون: Gastroenterology & Hepatology, Center for Liver, Digestive and Metabolic Diseases (CLDM), Institut Català de la Salut, [Felzen A, 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, 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). [Quintero Bernabeu J] European Reference Network on Hepatological Diseases (ERN RARE-LIVER). Unitat de Gastroenterologia, Hepatologia, Suport Nutricional i Trasplantaments Hepàtics Pediàtrics, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

المصدر: JHEP Reports, 5(2):100626. Elsevier
JHEP reports : innovation in hepatology, 5(2):100626. Elsevier
Scientia
JHEP Reports, Vol. 5, no.2, p. 100626 (2023)

مصطلحات موضوعية: Fetge - Malalties - Aspectes genètics, Surgical Procedures, Operative::Digestive System Surgical Procedures::Surgical Procedures, Operative::Surgical Procedures, Operative::Liver Transplantation [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Hepatology, Otros calificadores::Otros calificadores::/genética [Otros calificadores], phenotype, genotype, Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], Gastroenterology, Fetge - Trasplantació, Polycyclic Compounds::Fused-Ring Compounds::Steroids::Bile Acids and Salts [CHEMICALS AND DRUGS], interruption of the enterohepatic circulation, compuestos policíclicos::compuestos con anillos de fusión::esteroides::ácidos y sales biliares [COMPUESTOS QUÍMICOS Y DROGAS], PFIC2, enfermedades del sistema digestivo::enfermedades hepáticas [ENFERMEDADES], Anomalies cromosòmiques, Digestive System Diseases::Liver Diseases [DISEASES], Àcids biliars - Secrecions, BSEP, COMPOUND HETEROZYGOSITY, Other subheadings::Other subheadings::/genetics [Other subheadings], Internal Medicine, Immunology and Allergy, intervenciones quirúrgicas::procedimientos quirúrgicos del sistema digestivo::intervenciones quirúrgicas::intervenciones quirúrgicas::trasplante de hígado [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a9a4bf0cbb88ad99b95105970a79be1
https://pure.eur.nl/en/publications/48dc60fd-d2f3-4015-b5b3-25d845d0ca1a