المؤلفون: Alfares, BA, van der Doef, HPJ, Wildhaber, BE, Casswall, T, Nowak, G, Delle, M, Aldrian, D, Berchtold, V, Vogel, GF, Kalicinski, P, Markiewicz-Kijewska, M, Kolesnik, A, Bernabeu, JQ, Hally, MM, Larrarte, KM, Marra, P, Bravi, M, Pinelli, D, Kasahara, M, Sakamoto, S, Uchida, H, Mali, V, Aw, M, Franchi-Abella, S, Gonzales, E, Guerin, F, Cervio, G, Minetto, J, Sierre, S, de Santibanes, M, Ardiles, V, Uno, JW, Evans, H, Duncan, D, McCall, J, Hartleif, S, Sturm, E, Patel, J, Mtegha, M, Prasad, R, Ferreira, CT, Nader, LS, Farina, M, Jaramillo, C, Rodriguez-Davalos, M, Feola, P, Shah, AA, Wood, PM, Acord, MR, Fischer, RT, Mullapudi, B, Hendrickson, RJ, Khanna, R, Pamecha, V, Mukund, A, Sharif, K, Gupte, G, McGuirk, S, Porta, G, Spada, M, Alterio, T, Maggiore, G, Hardikar, W, Beretta, M, Dierckx, R, de Kleine, RHJ, Bokkers, RPH

المصدر: BMJ open. 13(7):e066343

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:153468555

المؤلفون: Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria., Podpeskar A; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Rieder D; Division of Bioinformatics, Medical University of Innsbruck, Innsbruck, Austria., Salzer H; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Garczarczyk-Asim D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Wang L; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Abuduxikuer K; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Scharrer A; Department of Pathology, Medical University Vienna, Vienna, Austria., Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Kingdom of Saudi Arabia., Aseeri AT; Section of Gastroenterology and Hepatology, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Kingdom of Saudi Arabia., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria., Heilos A; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria., Pichler J; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria., Huber WD; Department of Pediatric Nephrology and Gastroenterology, Medical University Vienna, Vienna, Austria., Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Knisely AS; Diagnostik- und Forschungsinstitut für Pathologie, Medizinische Universität Graz, Graz, Austria., Janecke AR; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

المصدر: Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 224-233. Date of Electronic Publication: 2024 Mar 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Kinesins*/genetics , gamma-Glutamyltransferase*/blood , gamma-Glutamyltransferase*/genetics , Mutation* , Liver Diseases*/genetics , Liver Diseases*/pathology, Humans ; Male ; Female ; Infant ; Exome Sequencing ; Infant, Newborn ; Genetic Predisposition to Disease ; Liver Transplantation ; Genotype ; Alleles ; Child, Preschool ; Child

المؤلفون: Koelink PJ; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Gómez-Mellado VE; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Duijst S; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., van Roest M; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Meisner S; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Ho-Mok KS; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Frank S; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands., Appelman BS; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands., Bloemendaal LT; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands., Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, 6020 Innsbruck, Austria., van de Graaf SFJ; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Bosma PJ; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Oude Elferink RPJ; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Wildenberg ME; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Department of Gastroenterology and Hepatology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Paulusma CC; Amsterdam University Medical Centers, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.

المصدر: Journal of Crohn's & colitis [J Crohns Colitis] 2024 Aug 06; Vol. 18 (7), pp. 1134-1146.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101318676 Publication Model: Print Cited Medium: Internet ISSN: 1876-4479 (Electronic) Linking ISSN: 18739946 NLM ISO Abbreviation: J Crohns Colitis Subsets: MEDLINE

مواضيع طبية MeSH: Colitis, Ulcerative*/metabolism , Colitis, Ulcerative*/pathology , Colitis, Ulcerative*/genetics , Intestinal Barrier Function*/genetics, Animals ; Female ; Humans ; Male ; Mice ; Adenosine Triphosphatases/metabolism ; Adenosine Triphosphatases/genetics ; Caco-2 Cells ; Cholestasis, Intrahepatic/metabolism ; Cholestasis, Intrahepatic/genetics ; Claudin-4/metabolism ; Claudin-4/genetics ; Crohn Disease/metabolism ; Crohn Disease/pathology ; Dextran Sulfate ; Disease Models, Animal ; Intestinal Mucosa/metabolism ; Intestinal Mucosa/pathology ; Mice, Inbred C57BL ; Mice, Knockout ; Permeability ; Phospholipid Transfer Proteins/metabolism ; Phospholipid Transfer Proteins/genetics ; Tight Junctions/metabolism

SCR Disease Name: Cholestasis, progressive familial intrahepatic 1

المؤلفون: Szabó L; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria., Pollio AR; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

المصدر: Traffic (Copenhagen, Denmark) [Traffic] 2024 Aug; Vol. 25 (8), pp. e12954.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 100939340 Publication Model: Print Cited Medium: Internet ISSN: 1600-0854 (Electronic) Linking ISSN: 13989219 NLM ISO Abbreviation: Traffic Subsets: MEDLINE

مواضيع طبية MeSH: Liver Diseases*/metabolism , Liver Diseases*/genetics , Protein Transport*, Humans ; Animals ; Endoplasmic Reticulum/metabolism ; Mucolipidoses/metabolism ; Mucolipidoses/genetics ; trans-Golgi Network/metabolism ; Malabsorption Syndromes ; Microvilli/pathology

SCR Disease Name: Microvillus inclusion disease

المؤلفون: Li W; Department of Radiology, Medical Imaging Center, University Medical Centre Groningen, Groningen, The Netherlands., van der Doef HPJ; Division of Paediatric Gastroenterology and Hepatology, Department of Paediatrics, University Medical Centre Groningen, Groningen, The Netherlands., Wildhaber BE; Swiss Pediatric Liver Centre, Division of Child and Adolescent Surgery, Geneva University Hospitals, Geneva, Switzerland., Marra P; Department of Radiology, ASST Papa Giovanni XXIII, Bergamo, Italy.; School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy., Bravi M; Department of Paediatric Hepatology, Gastroenterology and Transplantation, ASST Papa Giovanni XXIII, Bergamo, Italy., Pinelli D; Department of Organ Failure and Transplantation, ASST Papa Giovanni XXIII, Bergamo, Italy., Minetto J; Division of Liver Transplant, Hospital de Pediatría Prof Dr Juan P Garrahan, Buenos Aires, Argentina., Dip M; Division of Liver Transplant, Hospital de Pediatría Prof Dr Juan P Garrahan, Buenos Aires, Argentina., Sierre S; Division of Interventional Radiology, Hospital de Pediatría Prof Dr Juan P Garrahan, Buenos Aires, Argentina., de Santibañes M; HPB and Liver transplant unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Ardiles V; HPB and Liver transplant unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Uno JW; HPB and Liver transplant unit, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina., Hardikar W; Department of Gastroenterology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia., Bates S; Department of Gastroenterology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia., Goh L; Department of Gastroenterology, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia., Aldrian D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Seisenbacher J; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria., Neto JS; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, Sao Paulo, Brazil., Antunes da Fonseca E; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, Sao Paulo, Brazil., Magalhães Costa C; Hepatology and Liver Transplantation, Hospital Sírio-Libanês, Sao Paulo, Brazil., Ferreira CT; Department of Paediatrics, Hospital Santo Antonio, Salvador, Brazil., Nader LS; Department of Paediatrics, Hospital Santo Antonio, Porto Alegre, Brazil., Farina MA; Department of Paediatrics, Hospital Santo Antonio, Porto Alegre, Brazil., Dajani KZ; Department of Surgery, Division of Transplantation Surgery, University of Alberta Faculty of Medicine & Dentistry, Edmonton, Alberta, Canada., Parente A; Department of Surgery, Division of Transplantation Surgery, University of Alberta Faculty of Medicine & Dentistry, Edmonton, Alberta, Canada., Bigam DL; Department of Surgery, Division of Transplantation Surgery, University of Alberta Faculty of Medicine & Dentistry, Edmonton, Alberta, Canada., Liang TB; Department of Hepatobiliary and Pancreatic Surgery, Liver Transplant Center, Zhejiang University School of Medicine First Affiliated Hospital, Hangzhou, Zhejiang, China., Bai X; Department of Hepatobiliary and Pancreatic Surgery, Liver Transplant Center, Zhejiang University School of Medicine First Affiliated Hospital, Hangzhou, Zhejiang, China., Zhang W; Department of Hepatobiliary and Pancreatic Surgery, Liver Transplant Center, Zhejiang University School of Medicine First Affiliated Hospital, Hangzhou, Zhejiang, China., Gonsorčíková L; Department of Pediatrics, First Faculty of Medicine, Thomayer University Hospital, Praha, Czech Republic., Froněk J; Department of Transplant Surgery, Institute of Clinical and Experimental medicine, Praha, Czech Republic., Bohuš Š; Department of Pediatrics, First Faculty of Medicine, Thomayer University Hospital, Praha, Czech Republic., Franchi-Abella S; Department of Paediatric Radiology, Paris-Saclay University, AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre, France., Gonzales E; Paediatric Hepatology and Paediatric Liver Transplantation Unit, Paris-Saclay University, AP-HP, Hopital Bicetre, Le Kremlin-Bicêtre, France., Guérin F; Paediatric Surgery and Paediatric Liver Transplantation Unit, Paris-Saclay University, AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre, France., Junge N; Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Baumann U; Division for Pediatric Gastroenterology and Hepatology, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany., Richter N; Department of General, Visceral and Transplant Surgery, Hannover Medical School, Hannover, Germany., Hartleif S; Paediatric Gastroenterology and Hepatology, University Hospitals Tubingen, Tubingen, Germany., Sturm E; Paediatric Gastroenterology and Hepatology, University Hospitals Tubingen, Tubingen, Germany., Rajakannu M; Dr Rela Institute and Medical Centre, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India., Palaniappan K; Dr Rela Institute and Medical Centre, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India., Rela M; Dr Rela Institute and Medical Centre, Bharath Institute of Higher Education and Research, Chennai, Tamil Nadu, India., Pawaria A; Department of Pediatric Hepatology & Gastroenterology, Amrita Institute of Medical Sciences & Research Centre, New Delhi, Delhi, India., Rajakrishnan H; Department of Solid organ transplantation, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India., Surendran S; Department of Solid organ transplantation, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India., Kumar M; Centre for Liver and Biliary Sciences, Max Super Speciality Hospital Saket, New Delhi, Delhi, India., Agarwal S; Centre for Liver and Biliary Sciences, Max Super Speciality Hospital Saket, New Delhi, Delhi, India., Gupta S; Centre for Liver and Biliary Sciences, Max Super Speciality Hospital Saket, New Delhi, Delhi, India., Asthana S; Integrated Liver Care Department, Aster CMI Hospital, Bengaluru, Karnataka, India., Bandewar V; Integrated Liver Care Department, Aster CMI Hospital, Bengaluru, Karnataka, India., Raichurkar K; Integrated Liver Care Department, Aster CMI Hospital, Bengaluru, Karnataka, India., Spada M; Division of Hepatobiliopancreatic Surgery, Liver and Kidney Transplantion, Ospedale Pediatrico Bambino Gesu, Roma, Italy., Monti L; Gastrointestinal and Transplanted Liver Imaging Unit, Ospedale Pediatrico Bambino Gesù, Roma, Italy., Alterio T; Hepatology and Liver Transplant Unit, Ospedale Pediatrico Bambino Gesu, Roma, Italy., Yanagi Y; Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Japan., Uchida H; Organ Transplantation Centre, National Center for Child Health and Development Hospital, Tokyo, Japan., Komine R; Organ Transplantation Center, National Center for Child Health and Development, Setagaya-ku, Japan., Evans H; Department of Paediatric Gastroenterology, Starship Children's Health, Auckland, New Zealand., Carr-Boyd P; New Zealand Liver Transplant Unit, Auckland City Hospital, Auckland, Auckland, New Zealand., Duncan D; Department of Interventional Radiology, Auckland City Hospital, Auckland, Auckland, New Zealand., Stefanowicz M; Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warszawa, Poland., Latka-Grot J; Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warszawa, Poland., Kolesnik A; Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warszawa, Poland., Broering DC; Organ Transplant Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Raptis DA; Organ Transplant Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ann H Marquez K; Organ Transplant Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Mali V; National University Hospital, Singapore., Aw M; Department of Paediatrics, National University Hospital, Singapore., Beretta M; Department of Peadiatrics, Wits Donald Gordon Medical Centre, Johannesburg, South Africa., Van der Schyff F; Department of surgery, Wits Donald Gordon Medical Centre, Johannesburg, South Africa., Quintero-Bernabeu J; Pediatric Hepatology and Liver Trasplant Department, Vall d'Hebron University Hospital, Barcelona, Spain., Mercadal-Hally M; Pediatric Hepatology and Liver Trasplant Department, Vall d'Hebron University Hospital, Barcelona, Spain., Larrarte K M; Pediatric Hepatology and Liver Trasplant Department, Vall d'Hebron University Hospital, Barcelona, Spain., Andres AM; Pediatric Surgery Department, La Paz University Hospital, Madrid, Madrid, Spain., Hernandez-Oliveros F; Pediatric Surgery Department, La Paz University Hospital, Madrid, Madrid, Spain., Frauca E; Pediatric Hepatology Department, La Paz University Hospital, Madrid, Madrid, Spain., Casswall T; Department Clinical Interventions and Technology CLINTEC, Division for Paediatrics, Karolinska Institute, Stockholm, Sweden., Jorns C; Division for Transplantation Surgery, Department Clinical Interventions and Technology CLINTEC, Karolinska Institute, Stockholm, Sweden., Delle M; Department Clinical Science, Intervention and Technology CLINTEC, Division for Interventional Radiology, Karolinska Institute, Stockholm, Sweden., Gupte G; Liver Unit (including small bowel transplantation), Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Sharif K; Liver Unit (including small bowel transplantation), Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., McGuirk S; Department of Radiology, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK., Superina R; Division of Transplant and Advanced Hepatobiliary Surgery, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Caicedo JC; Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Jaramillo C; Department of Paediatrics, Division of Paediatric Gastroenterology, Hepatology and Nutrition, University of Utah, Primary Children's Hospital, Salt Lake City, Utah, USA., Bitterfeld L; Intermountain Primary Children's Hospital, Salt Lake City, Utah, USA., Kastenberg Z; Department of Surgery, Division of Paediatric Surgery, University of Utah, Primary Children's Hospital, Salt Lake City, Utah, USA., Shah AA; Division of Gastroenterology, Hepatology and Nutrition, Department of Paediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Domenick B; Division of Gastroenterology, Hepatology and Nutrition, Department of Paediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Acord MR; Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mazariegos GV; Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Soltys K; Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., DiNorcia J; Recanati-Miller Transplantation Institute, Mount Sinai Hospital, Los Angeles, California, USA., Antala S; Recanati-Miller Transplantation Institute, Mount Sinai Hospital, Los Angeles, California, USA., Florman SS; Recanati-Miller Transplantation Institute, Mount Sinai Hospital, Los Angeles, California, USA., Buchholz BM; Department of Visceral Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herden U; Department of Visceral Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Fischer L; Department of Visceral Transplantation, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Dierckx RAJO; Department of Nuclear Medicine and Molecular Imaging, Medical Imaging Center, University Medical Centre Groningen, Groningen, The Netherlands., Hartog H; Department of Surgery, Section of Hepatobiliary Surgery & Liver Transplantation, University Medical Centre Groningen, Groningen, The Netherlands., Bokkers RPH; Department of Radiology, Medical Imaging Center, University Medical Centre Groningen, Groningen, The Netherlands r.p.h.bokkers@umcg.nl.

المصدر: BMJ open [BMJ Open] 2024 Jun 12; Vol. 14 (6), pp. e081933. Date of Electronic Publication: 2024 Jun 12.

نوع المنشور: Journal Article; Multicenter Study; Observational Study

بيانات الدورية: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

مواضيع طبية MeSH: Hepatic Artery* , Liver Transplantation*/adverse effects , Registries* , Postoperative Complications*/epidemiology , Postoperative Complications*/etiology , Thrombosis*/etiology , Thrombosis*/epidemiology, Humans ; Retrospective Studies ; Child ; Incidence ; Adolescent ; Child, Preschool ; Female ; Male ; Constriction, Pathologic/etiology ; Infant ; Multicenter Studies as Topic

المؤلفون: Lenz D; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany., Shimura M; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan., Bianzano A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany., Kopajtich R; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany., Berutti R; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany., Adam R; Department of Paediatric Gastroenterology, Hepatology and Nutrition, University Children's Hospital, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Aldrian D; Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Baric I; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Baumann U; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Bozbulut NE; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey., Brugger M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Brunet T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Bufler P; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Burnytė B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Calvo PL; Regina Margherita Children's Hospital, Paediatic Gastroenterology Unit, Torino, Italy., Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin, Ireland., Dalgiç B; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey., Das AM; Hannover Medical School, Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover, Germany., Dezsőfi A; First Department of Paediatrics, Semmelweis University, Budapest, Hungary., Distelmaier F; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Fichtner A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Freisinger P; Department of Paediatrics, Hospital Reutlingen, Reutlingen, Germany., Garbade SF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Gaspar H; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Goujon L; CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France., Hadzic N; King's College Hospital, Paediatric Liver, GI & Nutrition Centre, London, United Kingdom., Hartleif S; Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany., Hegen B; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; University Medical Centre Hamburg-Eppendorf, Institute of Human Genetics, Hamburg., Henning S; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Hoerning A; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany., Houwen R; Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands., Hughes J; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland., Iorio R; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Iwanicka-Pronicka K; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Jankofsky M; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Junge N; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Kanavaki I; Department of Paediatric Gastroenterology, Hepatology and Nutrition, Third Department of Paediatrics, Attikon University General Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kansu A; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey., Kaspar S; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany., Kathemann S; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany., Kelly D; Birmingham Children's Hospital NHS Trust, Liver Unit, Birmingham, UK., Kirsaçlioğlu CT; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey., Knoppke B; University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany., Kohl M; Department of General Paediatrics, University Medical Centre Schleswig-Holstein, Kiel, Germany., Kölbel H; Department of Paediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany., Kölker S; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Konstantopoulou V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Krylova T; Research Centre for Medical Genetics, Moscow, Russian Federation., Kuloğlu Z; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey., Kuster A; Department of Neurometabolism, University Hospital of Nantes, Nantes, France., Laass MW; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Lainka E; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany., Lurz E; Department of Paediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Mandel H; Department of Paediatrics, Rambam Medical Centre, Meyer Children's Hospital, Metabolic Unit, Haifa, Israel., Mayerhanser K; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Mayr JA; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria., McKiernan P; University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, Pennsylvania, USA., McClean P; Children's Liver Unit, Leeds Children's Hospital, Leeds, UK., McLin V; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland., Mention K; Jeanne de Flandres Hospital, Reference Centre for Inherited Metabolic Diseases, Lille, France., Müller H; Department of Paediatrics, Division of Neonatology and Paediatric Intensive Care, University Hospital Marburg, Marburg, Germany., Pasquier L; CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France., Pavlov M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany., Pechatnikova N; Healthcare Department Morozov Children's City Clinical Hospital, Moscow City, Moscow., Peters B; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Petković Ramadža D; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Pilic D; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany., Rajwal S; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland., Rock N; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland., Roetig A; Laboratory of Genetics of Mitochondrial Diseases, Imagine Institute, University Paris Cité, INSERM UMR, Paris, France., Santer R; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Schenk W; Department of Paediatrics, University Hospital Augsburg, Augsburg, Germany., Semenova N; Research Centre for Medical Genetics, Moscow, Russian Federation., Sokollik C; Department of Paediatrics, Division of Paediatric Gastroenterology, Hepatology and Nutrition, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Sturm E; Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Tschiedel E; Department of Paediatrics I, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Urbonas V; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Urreizti R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, IRSJD, Esplugues de Llobregat, Barcelona, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)- Instituto de Salud Carlos III, Spain., Vermehren J; University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany., Vockley J; University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, Pennsylvania, USA., Vogel GF; Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria., Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., van der Woerd W; Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands., Wortmann SB; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria., Zakharova E; Research Centre for Medical Genetics, Moscow, Russian Federation., Hoffmann GF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Murayama K; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan., Staufner C; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.

المصدر: Hepatology (Baltimore, Md.) [Hepatology] 2024 May 01; Vol. 79 (5), pp. 1075-1087. Date of Electronic Publication: 2023 Nov 16.

نوع المنشور: Observational Study; Multicenter Study; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

مواضيع طبية MeSH: Liver Failure, Acute*/diagnosis , Liver Transplantation*/adverse effects, Child ; Humans ; Neoplasm Recurrence, Local ; Biomarkers ; Europe

المؤلفون: Mayerhofer C; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.

المصدر: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association [Clin Gastroenterol Hepatol] 2024 Apr; Vol. 22 (4), pp. 904-905. Date of Electronic Publication: 2023 Oct 31.

نوع المنشور: Letter

بيانات الدورية: Publisher: W.B. Saunders for the American Gastroenterological Association Country of Publication: United States NLM ID: 101160775 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1542-7714 (Electronic) Linking ISSN: 15423565 NLM ISO Abbreviation: Clin Gastroenterol Hepatol Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Aldrian D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Waldner B; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria., El-Gharbawy AH; Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., McKiernan P; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Vockley J; Department of Pediatrics, University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Landau YE; Metabolic Disease Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Al Mutairi F; Genetics and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City MNG-HA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia., Stepien KM; Adult Inherited Metabolic Diseases, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford, Greater Manchester, UK., Kwok AM; Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong., Yıldız Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Honzik T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic., Kelifova S; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University Hospital in Prague, Prague, Czech Republic., Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.; Disciplines of Child and Adolescent Health and Genomic Medicine, University of Sydney, Sydney, Australia., Lund AM; Departments of Clinical Genetics and Pediatrics, Center for Inherited Metabolic Diseases, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Mori M; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Scholl-Bürgi S; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Zöggeler T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Oberhuber R; Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Medical University of Innsbruck, Innsbruck, Austria., Schneeberger S; Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Medical University of Innsbruck, Innsbruck, Austria., Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Karall D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Mar; Vol. 47 (2), pp. 220-229. Date of Electronic Publication: 2024 Feb 20.

نوع المنشور: Observational Study; Multicenter Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

مواضيع طبية MeSH: Ornithine Carbamoyltransferase Deficiency Disease*/surgery , Hyperammonemia*/drug therapy , Liver Transplantation*, Humans ; Citrulline ; Carbamyl Phosphate/metabolism ; Carbamyl Phosphate/therapeutic use ; Ammonia/metabolism ; Retrospective Studies ; Carbamoyl-Phosphate Synthase (Ammonia)/metabolism ; Arginine/therapeutic use ; Ornithine Carbamoyltransferase

المؤلفون: Aldrian D; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Bochdansky C; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Kavallar AM; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Mayerhofer C; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Deeb A; Paediatric Endocrinology Division, Sheikh Shakhbout Medical City, Khalifa University, Abu Dhabi, United Arab Emirates., Habeb A; Department of Pediatrics, Prince Mohamed bin Abdulaziz Hospital, National Guard Health Affairs, Madinah, Saudi Arabia., Romera Rabasa A; Department of Pediatric Anesthesia, Gregorio Marañón University Hospital, Madrid, Spain., Khadilkar A; Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, India., Uçar A; Department of Pediatric Endocrinology & Diabetes, University of Health Sciences, Şişli Hamidiye Etfal Health Practices & Research Centre, Istanbul, Turkey., Knoppke B; University Children's Hospital Regensburg (KUNO), University Medical Center Regensburg, Regensburg, Germany., Zafeiriou D; 1st Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece., Lang-Muritano M; Department of Endocrinology and Diabetology and Children's Research Centre, University Children's Hospital, Zurich, Switzerland., Miqdady M; Division of Pediatric Gastroenterology, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates., Judmaier S; Department of Paediatrics, LKH Hochsteiermark/Standort Leoben, Leoben, Austria., McLin V; Department of Pediatrics, Gynecology and Obstetrics, Swiss Pediatric Liver Center, University of Geneva, Geneva, Switzerland., Furdela V; Department of Pediatrics, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine., Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria.

المصدر: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2024 Mar; Vol. 44 (3), pp. 811-822. Date of Electronic Publication: 2024 Jan 17.

نوع المنشور: Systematic Review; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1478-3231 (Electronic) Linking ISSN: 14783223 NLM ISO Abbreviation: Liver Int Subsets: In Process

المؤلفون: Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: georg.vogel@i-med.ac.at., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., Wortmann SB; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101040. Date of Electronic Publication: 2024 Jan 16.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE