Zobrazeno 1 - 10
of 2 152
pro vyhledávání: '"Lapatto, R."'
Autor:
Jalil S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Keskinen T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Juutila J; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Sartori Maldonado R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Euro L; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Suomalainen A; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Lapatto R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Kuuluvainen E; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Hietakangas V; Faculty of Biological and Environmental Sciences University of Helsinki, Helsinki, Finland; Institute of Biotechnology, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Otonkoski T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Hyvönen ME; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; New Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Wartiovaara K; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland. Electronic address: kirmo.wartiovaara@helsinki.fi.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 714-728.
Autor:
Guerlich K; Child Health Foundation (Stiftung Kindergesundheit), c/o Dr. von Hauner Children's Hospital, Munich, Germany.; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany., Patro-Golab B; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany.; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN)., Barnacle A; Department of Interventional Radiology, Great Ormond St Hospital for Children, London, UK.; Cardiovascular and Interventional Radiological Society of Europe (CIRSE)., Baumann U; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paediatric Gastroenterology and Hepatology Hannover Medical School, Hannover, Germany., Eicken A; German Heart Center Munich, Munich, Germany.; Association for European Paediatric and Congenital Cardiology (AEPC).; European Society of Cardiology (ESC)., Fraser AG; European Society of Cardiology (ESC).; Department of Cardiology, University Hospital of Wales, Cardiff, UK.; Biomedical Alliance in Europe., Gruszfeld D; Neonatal Department and NICU, Children's Memorial Health Institute, Warsaw, Poland.; European Society for Pediatric and Neonatal Intensive Care (ESPNIC)., Haas NA; Division of Pediatric Cardiology and Intensive Care, LMU University Hospital, LMU, Munich, Germany., Jonker AH; University of Twente, Enschede, The Netherlands., Kammermeier M; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany., Kenny D; Association for European Paediatric and Congenital Cardiology (AEPC).; Children's Health Ireland (CHI) at Crumlin and Mater Hospitals, Dublin, Ireland., Kolaček S; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Medical Faculty, University of Zagreb, Zagreb, Croatia., Lapatto R; Children's Hospital, Helsinki University Hospital, Helsinki, Finland.; European Academy of Paediatrics (EAP).; European Society of Endocrinology (ESE).; European Society for Paediatric Endocrinology (ESPE).; Society for Study of Inborn Errors of Metabolism (SSIEM).; European Reference Network on Rare Endocrine Conditions (EndoERN).; European Reference Network for Hereditary Metabolic Disorders (MetabERN)., Maconochie I; Imperial College NHS Healthcare Trust, London, UK.; European Society for Emergency Medicine (EUSEM)., Mader S; Parent Organisation European Foundation for the Care of Newborn Infants (EFCNI), Munich, Germany., McGauran G; Health Products Regulatory Authority, Dublin, Ireland.; Royal College of Physicians of Ireland., Melvin T; School of Medicine, Trinity College Dublin, Dublin, Ireland., Muensterer O; Department of Pediatric Surgery, Dr. von Hauner Children's Hospital, LMU Medical Center, Munich, Germany.; European Paediatric Surgeons' Association (EUPSA)., Piscoi P; Health Technology Unit B6, Directorate General for Health (DG SANTE), European Commission, Brussels, Belgium., Romano A; Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Saxena AK; European Paediatric Surgeons' Association (EUPSA).; Chelsea and Westminster NHS Fdn Trust, Imperial College London, London, UK., Schneider DT; Klinikum Dortmund, University Witten/Herdecke, Dortmund, Germany.; German Society of Pediatrics and Adolescent Medicine (Deutsche Gesellschaft für Kinder- und Jugendmedizin - DGKJ)., Turner MA; European Academy of Paediatrics (EAP).; Department of Women's and Children's Health, Instiute of Life Cycle and Medical Sciences, University of Liverpool, Liverpool, UK.; Royal College of Paediatrics and Child Health.; European Society for Developmental, Perinatal and Paediatric Pharmacology.; conect4children., Walle JV; Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.; European Society of Pediatric Nephrology (ESPN), Chair of the European Pediatric Dialysis Working group (EPDWG).; International Pediatric Nephrology Association (IPNA).; European Rare Kidney Disease Reference Network (ERKNet)., Koletzko B; Child Health Foundation (Stiftung Kindergesundheit), c/o Dr. von Hauner Children's Hospital, Munich, Germany.; Division of Metabolic and Nutritional Medicine, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, LMU, Munich, Germany.; European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; European Academy of Paediatrics (EAP).
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2023 Nov; Vol. 112 (11), pp. 2440-2448. Date of Electronic Publication: 2023 Aug 15.
Autor:
Uusimaa, J. (Johanna), Kettunen, J. (Johannes), Varilo, T. (Teppo), Järvelä, I. (Irma), Kallijärvi, J. (Jukka), Kääriäinen, H. (Helena), Laine, M. (Minna), Lapatto, R. (Risto), Myllynen, P. (Päivi), Niinikoski, H. (Harri), Rahikkala, E. (Elisa), Suomalainen, A. (Anu), Tikkanen, R. (Ritva), Tyynismaa, H. (Henna), Vieira, P. (Päivi), Zarybnicky, T. (Tomas), Sipilä, P. (Petra), Kuure, S. (Satu), Hinttala, R. (Reetta)
Isolated populations have been valuable for the discovery of rare monogenic diseases and their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of hereditary monogenic disorders caused by single major, usually autos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2423::ae5f5a49a877a717fdd0e03f166f916e
http://urn.fi/urn:nbn:fi-fe2023070481032
http://urn.fi/urn:nbn:fi-fe2023070481032
Autor:
Dewez JE; Clinical Research Department, London School of Hygiene & Tropical Medicine, London, United Kingdom.; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM)., Pembrey L; Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, United Kingdom., Nijman RG; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Infectious Diseases, Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom.; Research in European Paediatric Emergency Medicine (REPEM)., Del Torso S; ChildCare WorldWide, Padova, Italy.; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet)., Grossman Z; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Adelson School of Medicine, Ariel University, Ariel, Israel.; Pediatric Clinic, Maccabi Healthcare Services, Tel Aviv, Israel., Hadjipanayis A; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Paediatric Department, Larnaca General Hospital, Larnaca, Cyprus.; Medical School, European University Cyprus, Nicosia, Cyprus., Van Esso D; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Primary Care Paediatrician, Health Care Centre Pere Grau, Barcelona, Spain., Lim E; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Great North Children's Hospital, Paediatric Immunology, Infectious Diseases & Allergy, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Emonts M; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Great North Children's Hospital, Paediatric Immunology, Infectious Diseases & Allergy, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom., Burns J; Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, United Kingdom., Gras-LeGuen C; Centre d'Investigation Clinique CIC1413, INSERM-Nantes University Hospital, Nantes, France., Kohlfuerst D; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Medical University of Graz, Graz, Austria., Dornbusch HJ; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Medical University of Graz, Graz, Austria., Brengel-Pesce K; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; BioMérieux, Lyon, France., Mallet F; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; BioMérieux, Lyon, France., von Both U; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; University Hospital, Ludwig Maximilians University (LMU), Munich, Germany., Tsolia M; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; P. and A. Kyriakou Children's Hospital, Athens, Greece., Eleftheriou I; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; P. and A. Kyriakou Children's Hospital, Athens, Greece., Zavadska D; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Children Clinical University Hospital, Riga, Latvia., de Groot R; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Radboud University Medical Center, Nijmegen, the Netherlands., van der Flier M; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Moll H; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Research in European Paediatric Emergency Medicine (REPEM).; Department of General Paediatrics, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands., Hagedoorn N; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of General Paediatrics, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands., Borensztajn D; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of General Paediatrics, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands., Oostenbrink R; Research in European Paediatric Emergency Medicine (REPEM).; Department of General Paediatrics, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands., Kuijpers T; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Amsterdam University Medical Center, Amsterdam, the Netherlands., Pokorn M; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Infectious Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia., Vincek K; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Infectious Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia., Martinón-Torres F; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain., Rivero I; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain., Agyeman P; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Bern University Hospital, University of Bern, Bern, Switzerland., Carrol ED; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Alder Hey Children's Hospital, Liverpool, United Kingdom., Paulus S; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Paediatrics, Oxford Vaccine Group, University of Oxford, Oxford, United Kingdom., Cunnington A; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Infectious Diseases, Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom., Herberg J; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Infectious Diseases, Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom., Levin M; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Infectious Diseases, Section of Paediatric Infectious Diseases, Imperial College London, London, United Kingdom., Mujkić A; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; University of Zagreb, School of Medicine, Andrija Štampar School of Public Health, Zagreb, Croatia., Geitmann K; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Primary Care Paediatrician, BVKJ, Hagen, Germany., Da Dalt L; Research in European Paediatric Emergency Medicine (REPEM).; Department of Woman's and Child's Health Padova University Hospital, Padua, Italy., Valiulis A; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Vilnius University Medical Faculty, Institute of Clinical Medicine, Clinic of Children's Diseases, Vilnius, Lithuania., Lapatto R; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Department of Paediatrics, Helsinki University Hospital, Helsinki, Finland., Syridou G; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Attiko University Hospital, Chaidari, Greece., Altorjai P; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Association of Hungarian Primary Care Paediatricians, Budapest, Hungary., Torpiano P; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Department of Paediatrics and Adolescent Health at Mater Dei Hospital, Valletta, Malta., Størdal K; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Paediatric Research Institute, University of Oslo, Oslo, Norway., Illy K; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Dutch Society of Paediatrics NVK, Utrecht, the Netherlands., Mazur A; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Medical College of Rzeszow University, Rzeszów, Poland., Spreitzer MV; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Zdravstveni dom Domžale, Slovenian Paediatric Society, Burnaby, Slovenia., Rios J; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Hospital Beatriz Ângelo, Loures, Portugal., Wyder C; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Kinderärzte KurWerk, Burgdorf, Switzerland., Romankevych I; European Academy of Paediatrics Research in Ambulatory Settings network (EAPRASnet).; Ukrainian Academy of Pediatric Specialties, Ukraine., Basmaci R; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Service de Pédiatrie-Urgences, AP-HP, Hôpital Louis-Mourier, Colombes, France., Ibanez-Mico S; Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., Yeung S; Clinical Research Department, London School of Hygiene & Tropical Medicine, London, United Kingdom.; Personalised Risk Assessment in Febrile Illness to Optimise Real-Life Management Across the European Union (PERFORM).; Department of Paediatrics, St Mary's Imperial College Hospital, London, United Kingdom.
Publikováno v:
PloS one [PLoS One] 2022 Dec 20; Vol. 17 (12), pp. e0275336. Date of Electronic Publication: 2022 Dec 20 (Print Publication: 2022).
Autor:
Uusimaa J; Children and Adolescents, Oulu University Hospital, 90029 Oulu, Finland.; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland., Kettunen J; Computational Medicine, Center for Life Course Health Research, University of Oulu, 90014 Oulu, Finland.; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, 00271 Helsinki, Finland.; Biocenter Oulu, University of Oulu, 90014 Oulu, Finland., Varilo T; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, 00271 Helsinki, Finland.; Department of Medical Genetics, University of Helsinki, 00251 Helsinki, Finland., Järvelä I; Department of Medical Genetics, University of Helsinki, 00251 Helsinki, Finland., Kallijärvi J; Folkhälsan Institute of Genetics, Folkhälsan Research Center, 00014 Helsinki, Finland.; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland., Kääriäinen H; Department of Public Health and Welfare, Finnish Institute for Health and Welfare, 00271 Helsinki, Finland., Laine M; Department of Pediatric Neurology, Helsinki University Hospital and University of Helsinki, 00029 Helsinki, Finland., Lapatto R; Children's Hospital, University of Helsinki and Helsinki University Central Hospital, 00029 Helsinki, Finland., Myllynen P; Department of Clinical Chemistry, Cancer and Translational Medicine Research Unit, Medical Research Center, University of Oulu and Northern Finland Laboratory Centre NordLab, Oulu University Hospital, 90029 Oulu, Finland., Niinikoski H; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20014 Turku, Finland.; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, 20014 Turku, Finland.; Centre for Population Health Research, University of Turku and Turku University Hospital, 20014 Turku, Finland.; Department of Pediatrics, Turku University Hospital, 20014 Turku, Finland., Rahikkala E; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland.; Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland., Suomalainen A; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; HUS Diagnostics, Helsinki University Hospital, 00014 Helsinki, Finland., Tikkanen R; Institute of Biochemistry, Medical Faculty, University of Giessen, D-35392 Giessen, Germany., Tyynismaa H; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, 00014 Helsinki, Finland., Vieira P; Children and Adolescents, Oulu University Hospital, 90029 Oulu, Finland.; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland., Zarybnicky T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Helsinki Institute of Life Science, University of Helsinki, 00014 Helsinki, Finland., Sipilä P; Research Centre for Integrative Physiology and Pharmacology, Institute of Biomedicine, University of Turku, 20014 Turku, Finland.; Turku Center for Disease Modeling, Institute of Biomedicine, University of Turku, 20014 Turku, Finland., Kuure S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; GM-Unit, Laboratory Animal Center, Helsinki Institute of Life Science, University of Helsinki, 00014 Helsinki, Finland., Hinttala R; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital and University of Oulu, 90014 Oulu, Finland.; Biocenter Oulu, University of Oulu, 90014 Oulu, Finland.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2022 Oct 01; Vol. 15 (10). Date of Electronic Publication: 2022 Oct 26.
Autor:
Levtchenko E; Department of Pediatrics, University Hospitals Leuven Campus Gasthuisberg, KU Leuven, Leuven, Belgium., Servais A; Nephrology and Transplantation Department, Hôpital Necker Enfants Malades APHP, Paris, France., Hulton SA; Department of Nephrology, Birmingham Women's and Children's Hospital NHS Foundation Trust, Steelhouse Lane, B4 6NH, Birmingham, UK., Ariceta G; Paediatric Nephrology Department, University Hospital Vall d'Hebron, Professor of Paediatrics, The Autonomous University of Barcelona, Barcelona, Spain., Emma F; Division of Nephrology and Dialysis, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy., Game DS; Department of Renal Medicine, Guy's and St Thomas' NHS Foundation Trust, London, UK., Lange K; Medical Psychology, Hannover Medical School, Hannover, Germany., Lapatto R; Department of Pediatrics, Children's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Liang H; Service d'ophtalmologie III, CHNO des Quinze-Vingts, IHU ForeSight, Paris, France., Sberro-Soussan R; Department of Nephrology and Kidney Transplantation, University Hospital Center (CHU) Necker, Paris Descartes University-Sorbonne Paris Cité, Paris, France., Topaloglu R; Department of Pediatric Nephrology, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Das AM; Clinic for Paediatric Kidney-, Liver- and Metabolic Diseases, Hannover, Germany., Webb NJA; Department of Paediatric Nephrology, University of Manchester, Manchester Academic Health Science Centre, Royal Manchester Children's Hospital, Manchester, UK., Wanner C; Division of Nephrology, University Hospital Würzburg, Würzburg, Germany.
Publikováno v:
Clinical kidney journal [Clin Kidney J] 2022 Apr 15; Vol. 15 (9), pp. 1675-1684. Date of Electronic Publication: 2022 Apr 15 (Print Publication: 2022).
Autor:
Maldonado R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Jalil S; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Keskinen T; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Nieminen AI; Metabolomics Unit, Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland., Hyvönen ME; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Lapatto R; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Wartiovaara K; Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Apr 01; Vol. 31, pp. 100863. Date of Electronic Publication: 2022 Apr 01 (Print Publication: 2022).
Autor:
Ahring, K., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, F., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Couce, M.L., Cozens, A., Dahri, S., Das, A.M., de Laet, C., de las Heras Montero, J., de Vreugd, A., Debray, F.G., Dercksen, M., Descartes, M., Diogo, L., Drogari, E., Eiroa, H., Eminoglu, F.T., Enns, G.M., Eyskens, F., Feillet, F., Ford, S., Franzson, L., Freisinger, P., Garcia, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Heredia, R.S., Hertecant, J., Hoi-Yee Wu, T., Inwood, A., Jamuar, S.S., Jesina, P., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Kor, D., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Lavigne, C., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Megdad, E.M., Mitchell, J., Mochel, F., Moreno-Lozano, P.J., Morris, A., Moura de Souza, C.F., Munoz, T., Nevalainen, P.I., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Piazzon, F.B., Pitt, J., Poon, G., Porta, F., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sanchez-Valle, A., Sander, J., Sarkhail, P., Schwartz, I.V.D., Sharma, R., Sheng, B., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Tkemaladze, T., Tran, C., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Vulturar, R., Wagenmakers, M.A.E.M., Weinhold, N., Williams, A.B., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A., Zolkowska, J., van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, Zaki, Maha S., Maillot, François, van Spronsen, Francjan J.
Publikováno v:
In The Journal of Pediatrics December 2021 239:231-234
Autor:
Kytö, V.1 ville.kyto@utu.fi, Lapatto, R.2, Lakkisto, P.2, Saraste, A.1, Voipio-Pulkki, L.-M.2, Vuorinen, T.1, Pulkki, K.2
Publikováno v:
European Journal of Clinical Investigation. Mar2004, Vol. 34 Issue 3, p167-175. 9p.
Autor:
Dimitri P; The Academic Unit of Child Health, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Fernandez-Luque L; Adhera Health Inc, Palo Alto, CA, United States., Banerjee I; Royal Manchester Children's Hospital, Manchester University Hospitals Foundation Trust, Manchester, United Kingdom., Bergadá I; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' (CEDIE), Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina., Calliari LE; Department of Paediatrics, Santa Casa de São Paulo School of Medical Sciences, São Paulo, Brazil., Dahlgren J; Department of Pediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden., de Arriba A; Paediatric Endocrinology, Hospital Universitario Miguel Servet, Zaragoza, Spain., Lapatto R; New Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Reinehr T; Vestische Hospital for Children and Adolescents, University of Witten/Herdecke, Datteln, Germany., Senniappan S; Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, United Kingdom., Thomas-Teinturier C; Department of Pediatric Endocrinology, Assistance Publique - Hôpitaux de Paris, Université Paris Saclay, Hôpital Bicetre, Le Kremlin Bicêtre, France., Tsai MC; Department of Pediatrics, National Cheng Kung University, Tainan, Taiwan., Anuar Zaini A; Department of Pediatrics, University Malaya Medical Centre, Kuala Lumpur, Malaysia., Bagha M; Tiba Medical Inc, Beaverton, OR, United States., Koledova E; Global Medical Affairs, Cardiometabolic and Endocrinology, Merck KGaA, Darmstadt, Germany.
Publikováno v:
Journal of medical Internet research [J Med Internet Res] 2021 May 20; Vol. 23 (5), pp. e27446. Date of Electronic Publication: 2021 May 20.