Zobrazeno 1 - 10
of 38
pro vyhledávání: '"van de Mheen E"'
Autor:
Corazolla EM; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Eskes ECB; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Veldwijk J; Erasmus School of Health Policy and Management, Erasmus University Rotterdam, Rotterdam, The Netherlands.; Erasmus Choice Modelling Centre, Erasmus University Rotterdam, Rotterdam, The Netherlands., Brands MMMG; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Department of Pediatrics, Division of Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Dekker H; The Dutch Patient Association for Inherited Metabolic Diseases (VKS), Zwolle, The Netherlands., van de Mheen E; Fabry Support and Information Group the Netherlands (FSIGN), Drachten, The Netherlands., Langeveld M; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Hollak CEM; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Sjouke B; Inborn Errors of Metabolism, Research Institute of Amsterdam Gastroenterology Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands. barbara.sjouke@radboudumc.nl.; Department of Internal Medicine, Radboudumc, Nijmegen, The Netherlands. barbara.sjouke@radboudumc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 03; Vol. 19 (1), pp. 367. Date of Electronic Publication: 2024 Oct 03.
Autor:
Eskes ECB; Amsterdam UMC, University of Amsterdam, Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Beishuizen CRL; Amsterdam UMC, University of Amsterdam, General Practice, Meibergdreef 9, Amsterdam, The Netherlands., Corazolla EM; Amsterdam UMC, University of Amsterdam, Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam UMC, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Meibergdreef 9, Amsterdam, The Netherlands., van Middelaar T; Amsterdam UMC, University of Amsterdam, Neurology, Meibergdreef 9, Amsterdam, The Netherlands., Brands MMMG; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Division of Metabolic Diseases, Meibergdreef 9, Amsterdam, The Netherlands., Dekker H; VKS, The Dutch Patient Association for Inherited Metabolic Diseases, Zwolle, The Netherlands., van de Mheen E; Fabry Support and Information Group the Netherlands (FSIGN), Drachten, The Netherlands., Langeveld M; Amsterdam UMC, University of Amsterdam, Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Hollak CEM; Amsterdam UMC, University of Amsterdam, Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Meibergdreef 9, Amsterdam, The Netherlands., Sjouke B; Amsterdam UMC, University of Amsterdam, Endocrinology and Metabolism, Meibergdreef 9, Amsterdam, The Netherlands. b.sjouke@amsterdamumc.nl.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Meibergdreef 9, Amsterdam, The Netherlands. b.sjouke@amsterdamumc.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 21; Vol. 17 (1), pp. 383. Date of Electronic Publication: 2022 Oct 21.
Autor:
Biegstraaten, Marieke, Arngrímsson, R, Barbey, F, Boks, L, Cecchi, Franco, Deegan, PB, Feldt-Rasmussen, Ulla, Geberhiwot, T, Germain, DP, Hendriksz, C, Hughes, DA, Kantola, I, Karabul, N, Lavery, C, Linthorst, GE, Mehta, A, van de Mheen, E, Oliveira, JP, Parini, R, Ramaswami, Uma, Rudnicki, M, Serra, A, Sommer, Claudia, Sunder-Plassmann, G, Svarstad, Einar, Sweeb, A, Terryn, W, Tylki-Szymanska, A, Tøndel, Camilla, Vujkovac, B, Weidemann, Frank, Wijburg, FA, Woolfson, P, Hollak, CE.
Externí odkaz:
https://hdl.handle.net/1956/10751
Autor:
Biegstraaten M; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. m.biegstraaten@amc.uva.nl., Arngrímsson R; Biomedical Center, University of Iceland and Landspitali University Hospital, Reykjavík, Iceland. reynirar@landspitali.is., Barbey F; Center of Molecular Diseases, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. frederic.barbey@chuv.ch., Boks L; Fabry International Network (FIN), Amersham, UK. lut@boks.be., Cecchi F; Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy. francocecchi337@gmail.com., Deegan PB; Department of Medicine, Addenbrooke's Hospital and University of Cambridge, Cambridge, UK. patrick.deegan@addenbrookes.nhs.uk., Feldt-Rasmussen U; Department of Medical Endocrinology, Copenhagen University Hospital, Copenhagen, Denmark. Ulla.Feldt-Rasmussen@regionh.dk., Geberhiwot T; Department of Endocrinology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. Tarekegn.Geberhiwot@uhb.nhs.uk., Germain DP; Division of Medical Genetics, University of Versailles, Montigny, France. dominique.germain@rpc.aphp.fr., Hendriksz C; Department of Adult Inherited Metabolic Disorders, Manchester Academic Health Science Centre, Manchester, UK. Chris.Hendriksz@srft.nhs.uk., Hughes DA; Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital, University College London, London, UK. rmgvdah@ucl.ac.uk., Kantola I; Division of Medicine, Turku University Hospital, Turku, Finland. Ilkka.Kantola@tyks.fi., Karabul N; Villa Metabolica, Centre for Paediatric and Adolescent Medicine, Mainz, Germany. Nesrin.Karabul@unimedizin-mainz.de., Lavery C; Fabry International Network (FIN), Amersham, UK. C.Lavery@mpssociety.org.uk., Linthorst GE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. g.e.linthorst@amc.uva.nl., Mehta A; Department of Haematology, Lysosomal Storage Disorders Unit, Royal Free Hospital, University College London, London, UK. atul.mehta1@nhs.net., van de Mheen E; Fabry Support and Information Group the Netherlands (FSIGN), Oosterwolde, the Netherlands. erica@fabry.nl., Oliveira JP; Department of Genetics, University of Porto & São João Hospital Centre, Porto, Portugal. jpo@med.up.pt., Parini R; Rare Metabolic Diseases Unit, Paediatric Clinic, San Gerardo University Hospital, Monza, Italy. rossella.parini@unimib.it., Ramaswami U; Lysosomal Disorders Unit, Institute of Immunity and Transplantation, Royal Free Hospital, London, UK. uma.ramaswami@nhs.net., Rudnicki M; Department of Internal Medicine IV, Division Nephrology and Hypertension, Medical University Innsbruck, Innsbruck, Austria. michael.rudnicki@i-med.ac.at., Serra A; Epidemiology, Biostatistics and Prevention Institute, University of Zurich, Zurich, Switzerland. a.serra@gmx.ch., Sommer C; Department of Neurology, University of Würzburg, Würzburg, Germany. sommer@uni-wuerzburg.de., Sunder-Plassmann G; Department of Medicine III, Division Nephrology and Dialysis, Medical University of Vienna, Vienna, Austria. Gere.Sunder-Plassmann@meduniwien.ac.at., Svarstad E; Department of Medicine, Haukeland University Hospital and Department of Clinical Medicine, University of Bergen, Bergen, Norway. Einar.Svarstad@k1.uib.no., Sweeb A; Fabry Support and Information Group the Netherlands (FSIGN), Oosterwolde, the Netherlands. asweeb@xs4all.nl., Terryn W; Department of Internal Medicine, Division of Nephrology, Ghent University Hospital, Ghent, Belgium. wim.terryn@gmail.com., Tylki-Szymanska A; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. atylki@op.pl., Tøndel C; Clinical Trial Unit/Department of Paediatrics, Haukeland University Hospital, Bergen, Norway. Camilla.Tondel@k1.uib.no., Vujkovac B; General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia. bojan.vujkovac@guest.arnes.si., Weidemann F; Innere Klinik II, Katharinen Hospital Unna, Unna, Germany. f.weidemann@katharinen-hospital.de., Wijburg FA; Department of Paediatrics, Academic Medical Center, Amsterdam, The Netherlands. f.a.wijburg@amc.uva.nl., Woolfson P; Department of Cardiology, Salford Royal Hospital NHS Foundation Trust, Manchester, UK. Peter.Woolfson@srft.nhs.uk., Hollak CE; Department of Internal Medicine, Division Endocrinology and Metabolism, Academic Medical Center, PO Box 22660, Amsterdam, 1100 DD, The Netherlands. c.e.hollak@amc.uva.nl.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Mar 27; Vol. 10, pp. 36. Date of Electronic Publication: 2015 Mar 27.
Autor:
Pietilä‐Effati, Päivi1 (AUTHOR) paivi.pietila‐effati@ovph.fi, Söderström, Johan2 (AUTHOR), Saarinen, Jukka T.3 (AUTHOR), Löyttyniemi, Eliisa4 (AUTHOR), Kantola, Ilkka5 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. May2022, Vol. 10 Issue 5, p1-7. 7p.
Autor:
van Druten, V. P.1,2 (AUTHOR) v.v.druten@jbz.nl, Bartels, E. A.2,3 (AUTHOR), van de Mheen, D.2 (AUTHOR), de Vries, E.1,2 (AUTHOR), Kerckhoffs, A. P. M.4,5 (AUTHOR), Nahar-van Venrooij, L. M. W.1 (AUTHOR)
Publikováno v:
BMC Health Services Research. 3/25/2022, Vol. 22 Issue 1, p1-21. 21p. 15 Charts.
Autor:
Chimenz, Roberto1 rchimenz@unime.it, Chirico, Valeria2, Cuppari, Caterina2, Ceravolo, Giorgia2, Concolino, Daniela3, Monardo, Paolo4, Lacquaniti, Antonio4
Publikováno v:
Pediatric Nephrology. Jan2022, Vol. 37 Issue 1, p95-103. 9p. 1 Chart.
Autor:
Joannès C; EQUITY Research Team, Center for Epidemiology & Research in POPulation Health (CERPOP), UMR 1295, University Toulouse III Paul Sabatier, Toulouse, France., Crozes F; EQUITY Research Team, Center for Epidemiology & Research in POPulation Health (CERPOP), UMR 1295, University Toulouse III Paul Sabatier, Toulouse, France.; Institute of Nursing Training, Toulouse University Hospital, Toulouse, France., Kelly-Irving M; EQUITY Research Team, Center for Epidemiology & Research in POPulation Health (CERPOP), UMR 1295, University Toulouse III Paul Sabatier, Toulouse, France., Delpierre C; EQUITY Research Team, Center for Epidemiology & Research in POPulation Health (CERPOP), UMR 1295, University Toulouse III Paul Sabatier, Toulouse, France., Couarraze S; Department of Medicine, Maieutics and Paramedicine, Faculty of Health, AGING Research Team, Center for Epidemiology & Research in POPulation Health (CERPOP), UMR 1295, University Toulouse III Paul Sabatier, Toulouse, France.
Publikováno v:
Journal of advanced nursing [J Adv Nurs] 2024 Oct 18. Date of Electronic Publication: 2024 Oct 18.
Autor:
Kisa PT; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Hismi BO; Department of Pediatrics, Division of Inherited Metabolic Diseases, Marmara University Faculty of Medicine, Istanbul, Turkey., Kocabey M; Department of Medical Genetics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Gulten ZA; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Huddam B; Department of Nephrology, Department of Internal Medicine, Mugla Sitki Kocman University, Faculty of Medicine, Mugla, Turkey., Ekinci S; Department of Cardiology, Health Sciences University Izmir Tepecik Education and Research Hospital, Izmir, Turkey., Bozkaya E; Department of Nephrology, Denizli State Hospital, Denizli, Turkey., Akar H; Department of Internal Medicine, Health Sciences University Izmir Tepecik Education and Research Hospital, Izmir, Turkey., Pekuz OKK; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Aydogan A; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Arslan N; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.; Izmir Biomedicine and Genome Center, Izmir, Turkey.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63552. Date of Electronic Publication: 2024 Feb 19.
Autor:
Hughes, Derralynn A., Bichet, Daniel G., Giugliani, Roberto, Hopkin, Robert J., Krusinska, Eva, Nicholls, Kathleen, Olivotto, Iacopo, Feldt-Rasmussen, Ulla, Sakai, Norio, Skuban, Nina, Sunder-Plassmann, Gere, Torra, Roser, Wilcox, William R.
Publikováno v:
Journal of Medical Genetics; Jul2023, Vol. 60 Issue 7, p722-731, 10p